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
LRRN1	57633	broad.mit.edu	37	3	3887513	3887513	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:3887513C>T	ENST00000319331.3	+	2	1949	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	396	LRRCT.					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)		AGCCCCTGTCCATGTTCTGTG	0.493000													30	49					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364565	30364565	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30364565T>A	ENST00000305596.3	-	6	1027	c.852A>T	c.(850-852)gaA>gaT	p.E284D	CD2BP2_ENST00000569466.1_Missense_Mutation_p.E284D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	284	GYF.				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						CCCACTTATATTCCCACATCA	0.572000													33	58					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221767	62221767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62221767G>A	ENST00000266068.1	-	9	1746	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	GMEB2_ENST00000370077.1_Missense_Mutation_p.P423L|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	423					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGGGGAGGCCGGGGAGCTGGC	0.692000													5	11					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691155	90691155	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:90691155G>A	ENST00000312600.3	+	2	793	c.579G>A	c.(577-579)agG>agA	p.R193R	PABPC5_ENST00000373105.1_Silent_p.R29R	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	193						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAGAACCAGGGATAGAGCAA	0.473000													27	31					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21784504	21784504	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21784504T>G	ENST00000328843.6	+	52	8385	c.8354T>G	c.(8353-8355)aTg>aGg	p.M2785R	DNAH11_ENST00000409508.3_Missense_Mutation_p.M2778R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2785					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						GATAGTCACATGCTGCTTCAA	0.478000									Kartagener syndrome				7	13					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649270	75649270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75649270C>T	ENST00000361470.2	+	1	1225	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	316	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGTGAGGGATCGAGCACCTCC	0.711000													13	24					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089093	220089093	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:220089093C>T	ENST00000366926.3	-	4	1317	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.D141N	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	386					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCCTTCAAGTCCACATTTTCA	0.512000													24	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500735	179500735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179500735C>T	ENST00000589042.1	-	226	41787	c.41563G>A	c.(41563-41565)Gaa>Aaa	p.E13855K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11287K|TTN_ENST00000591111.1_Missense_Mutation_p.E12214K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4915K|TTN_ENST00000342175.6_Missense_Mutation_p.E4982K|TTN_ENST00000460472.2_Missense_Mutation_p.E4790K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12214							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCGTTTTCCACAGTAACT	0.458000													41	58					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838038	155838038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155838038G>A	ENST00000368324.4	+	2	570	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGCTAAGCCGAGACAAAGAT	0.512000													49	53					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064398	7064398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7064398G>A	ENST00000456013.1	+	5	843	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PTPN6_ENST00000399448.1_Missense_Mutation_p.E203K|PTPN6_ENST00000318974.9_Missense_Mutation_p.E201K|PTPN6_ENST00000447931.2_Missense_Mutation_p.E162K	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	201	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGGGATTGAGGAGGCCTCAGG	0.622000													55	77					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891418	44891418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44891418G>A	ENST00000330997.4	-	4	1053	c.989C>T	c.(988-990)tCc>tTc	p.S330F	ZNF285_ENST00000544719.2_Missense_Mutation_p.S330F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S337F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTTGTGAAGGGAAGAGCTGCG	0.473000													32	61					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516955	158516955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158516955C>T	ENST00000302617.3	-	1	940	c.941G>A	c.(940-942)gGa>gAa	p.G314E		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGCCCACTTCCTCTGCAATG	0.458000													10	51					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483193	36483193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36483193G>A	ENST00000342292.4	-	11	6279	c.6259C>T	c.(6259-6261)Cca>Tca	p.P2087S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2087						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGGCTGTGGGGACAGACCC	0.577000													44	77					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752626	36752626	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:36752626C>T	ENST00000354618.5	+	4	1019	c.795C>T	c.(793-795)ccC>ccT	p.P265P	THRAP3_ENST00000469141.2_Silent_p.P265P	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	265	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCGGTCACCCCGTCCTAGCC	0.622000			T	USP6	aneurysmal bone cysts								43	39					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468564	61468564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61468564G>A	ENST00000343916.3	+	30	1736	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	578	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGCGCTCGAGGACCCCCTGGA	0.677000													34	56					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22835697	22835697	+	Missense_Mutation	SNP	G	G	C	rs150068799		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22835697G>C	ENST00000404138.1	+	10	2315	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	ZBTB40_ENST00000375647.4_Missense_Mutation_p.E602Q|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E490Q	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	602					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TACCTCGGAGGAGGAGCACCT	0.473000													13	51					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12962939	12962939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12962939C>T	ENST00000251472.4	+	9	926	c.887C>T	c.(886-888)cCc>cTc	p.P296L	MAST1_ENST00000591495.1_Missense_Mutation_p.P292L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	296					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GAATTCAACCCCGAGGAGTTC	0.652000													34	71					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148568459	148568459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148568459G>A	ENST00000340855.6	-	8	1386	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	IDS_ENST00000541269.1_Missense_Mutation_p.P182S|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	393						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTATACCTGGCTCCATCAAC	0.433000													30	40					0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892082	90892082	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:90892082C>T	ENST00000412799.2	-	1	587	c.348G>A	c.(346-348)ggG>ggA	p.G116G																								CCACTCATTTCCCATAGACAC	0.527000													3	13					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2445840	2445840	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2445840G>A	ENST00000378466.3	-	11	1452	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	PANK4_ENST00000435556.3_Silent_p.F441F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	480					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTTCTGCCGGAACTTCTCCG	0.627000													34	27					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125875950	125875950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125875950G>A	ENST00000392693.3	-	9	1682	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	CDON_ENST00000263577.7_Missense_Mutation_p.P519S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	519					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTTTCAAAAGGAACTGCAGGG	0.438000													14	33					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76202114	76202114	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76202114G>A	ENST00000409257.5	+	10	922	c.868G>A	c.(868-870)Gac>Aac	p.D290N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000327898.5_Missense_Mutation_p.D295N|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000591952.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	290						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GACCCAGAAGGACAACGTGCT	0.552000													6	31					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171026	104171026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:104171026C>T	ENST00000374861.3	+	3	1218	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R326*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398000													86	18					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158177885	158177885	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:158177885G>A	ENST00000410096.1	-	3	1044	c.753C>T	c.(751-753)tcC>tcT	p.S251S	ERMN_ENST00000397283.2_Silent_p.S264S|ERMN_ENST00000535935.1_Silent_p.S145S|ERMN_ENST00000420719.2_Silent_p.S231S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	251						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAGCATTTCTGGAGATATCAC	0.428000													52	96					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48542846	48542846	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:48542846T>A	ENST00000358350.4	-	46	6423	c.5819A>T	c.(5818-5820)aAc>aTc	p.N1940I	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.N1940I|FRYL_ENST00000503238.1_Missense_Mutation_p.N1940I|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1940					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCAAAGAGTTACTTCTTGC	0.413000													19	27					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3175453	3175453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:3175453G>A	ENST00000381075.2	+	21	2169	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PFKP_ENST00000381072.1_Missense_Mutation_p.E75K|PFKP_ENST00000381125.4_Missense_Mutation_p.E657K	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	657					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTATTCAGAAGAGGGCAAAGG	0.522000													70	117					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205158	151205158	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151205158G>A	ENST00000409426.1	+	6	1027	c.582G>A	c.(580-582)aaG>aaA	p.K194K	PIP5K1A_ENST00000368888.4_Silent_p.K206K|PIP5K1A_ENST00000368890.4_Silent_p.K193K|PIP5K1A_ENST00000441902.2_Silent_p.K194K			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	206	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTGCAGAAGCTGCTTCCAG	0.498000													9	41					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908777	24908777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24908777G>A	ENST00000396432.2	-	9	2533	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P470S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	682					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATAAAGAGGGGGATTTCCCA	0.483000													17	36					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129013	20129013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20129013C>T	ENST00000334554.7	+	9	1226	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270L|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	362						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCGGCTTTCCCCACGGGTCCC	0.657000													9	21					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321984	55321984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55321984G>A	ENST00000314644.2	+	1	202	c.202G>A	c.(202-204)Gga>Aga	p.G68R		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCCTCCTGGGACTTTCACA	0.383000										HNSCC(20;0.049)			55	79					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279276	105279276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105279276C>T	ENST00000327674.4	-	2	1058	c.723G>A	c.(721-723)atG>atA	p.M241I	SERPINA7_ENST00000372563.1_Missense_Mutation_p.M241I			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	241					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTATTGTTCCATCTGGTGCA	0.458000													62	78					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98382961	98382961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:98382961C>T	ENST00000186436.5	-	34	4781	c.4553G>A	c.(4552-4554)cGa>cAa	p.R1518Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1518						integral to membrane				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						CTGGGCATTTCGTGATTTGGA	0.388000													28	38					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880923	1880923	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:1880923G>A	ENST00000505790.1	-	4	779	c.323C>T	c.(322-324)tCg>tTg	p.S108L	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGCAGATCCCGAACCATCCTT	0.632000													21	66					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70316716	70316716	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70316716C>T	ENST00000374259.3	+	1	670	c.338C>T	c.(337-339)gCc>gTc	p.A113V	FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Splice_Site_p.A58_splice	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	113					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					ATCAGCCAGGCCATTGAAAGC	0.587000													13	15					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256729	57256729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57256729G>A	ENST00000278426.3	-	12	1685	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	SLC43A1_ENST00000528450.1_Missense_Mutation_p.L444F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	444					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTACCTGGAGGTGTAAGTTG	0.562000													23	38					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778766	31778766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31778766C>T	ENST00000375654.4	-	2	1173	c.984G>A	c.(982-984)atG>atA	p.M328I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.M328I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	328					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGCCTTATCCATCTTGGCAT	0.502000													21	12					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502000													59	58					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579506	43579506	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43579506G>A	ENST00000406487.1	-	3	807	c.709_splice	c.e3+1	p.H237_splice		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	237					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.532000													112	207					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8435192	8435192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:8435192C>T	ENST00000447869.1	-	11	2112	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	STK33_ENST00000534493.1_Missense_Mutation_p.M357I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.M211I|STK33_ENST00000315204.1_Missense_Mutation_p.M398I|STK33_ENST00000396672.1_Missense_Mutation_p.M398I|STK33_ENST00000396673.1_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	398						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCATTCCTTCATCATCTCTA	0.363000													41	49					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57606240	57606240	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57606240G>C	ENST00000243077.3	+	89	14003	c.13537G>C	c.(13537-13539)Ggg>Cgg	p.G4513R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4513	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTCTACATGGGGGGCCATGG	0.642000													16	42					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191006	42191006	+	Missense_Mutation	SNP	C	C	T	rs1049234		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42191006C>T	ENST00000006724.3	-	2	412	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CEACAM7_ENST00000338196.4_Missense_Mutation_p.E71K|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.E71K|CEACAM7_ENST00000602225.1_Missense_Mutation_p.E71K	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	71	Ig-like V-type.			E -> Q (in Ref. 3; AAB62924/AAB62925).		anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGCACCCTTTCCCCTTTGTAC	0.448000													46	107					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150237006	150237006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:150237006G>A	ENST00000369111.4	+	11	1931	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	321						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)			GAAGAGGCTGGAAAACCGAAA	0.443000													16	24					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342495	111342495	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:111342495C>T	ENST00000308208.5	+	11	1688	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	CCDC63_ENST00000552694.1_Silent_p.N403N|CCDC63_ENST00000545036.1_Silent_p.N442N	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	482										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCTTCATCAACCCTTTCTGGG	0.587000													39	90					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627145	28627145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28627145C>T	ENST00000264716.4	+	2	1137	c.274C>T	c.(274-276)Cct>Tct	p.P92S	FOSL2_ENST00000545753.1_Missense_Mutation_p.P53S|FOSL2_ENST00000379619.1_Missense_Mutation_p.P67S|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	92					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGCCTCTGTCCCTGGACACAT	0.642000													54	82					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75475786	75475786	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75475786C>T	ENST00000266126.5	+	8	1031	c.951C>T	c.(949-951)ccC>ccT	p.P317P		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	317					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		ACTACGTTCCCCCAGAGCTCA	0.488000													68	121					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41348870	41348870	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41348870G>A	ENST00000361937.3	-	17	2444	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	INO80_ENST00000401393.3_Missense_Mutation_p.R674W			Q9ULG1	INO80_HUMAN	INO80 complex subunit	674	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGCCGATTCCGACACTGGAAC	0.393000													61	117					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32089206	32089206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32089206G>A	ENST00000403528.2	+	7	1206	c.821G>A	c.(820-822)gGa>gAa	p.G274E	HCRTR1_ENST00000373706.5_Missense_Mutation_p.G274E|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G274E	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	274					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGCCTGAGTGGAGAGCCCCAG	0.647000													27	18					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46486873	46486873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46486873G>A	ENST00000231751.4	-	12	1707	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	LTF_ENST00000417439.1_Missense_Mutation_p.S469F|LTF_ENST00000426532.2_Missense_Mutation_p.S427F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	471	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCCTTTCACAGAGTTCCAGGT	0.527000													23	49					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74559421	74559421	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:74559421A>C	ENST00000340360.6	-	15	1774	c.1443T>G	c.(1441-1443)gaT>gaG	p.D481E	XRRA1_ENST00000321448.8_Missense_Mutation_p.D206E|XRRA1_ENST00000527087.1_Missense_Mutation_p.D394E	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	481					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GCTCTAGCATATCCTTTGAGG	0.547000													10	11					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475021	32475021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:32475021C>T	ENST00000404025.2	-	5	2400	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	NLRC4_ENST00000360906.5_Missense_Mutation_p.E638K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E638K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	638					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTGGGGCCTCTTCCATGTGG	0.498000													77	115					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26677573	26677573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26677573G>A	ENST00000288710.2	+	15	2052	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CAAGGACTCGGAGTACTGGCA	0.562000													40	59					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035551	56035551	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56035551G>C	ENST00000244728.5	-	5	1319	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	COL21A1_ENST00000535941.1_Missense_Mutation_p.Q308E|COL21A1_ENST00000370819.1_Missense_Mutation_p.Q308E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	308	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTGCTATTTGTGGCCTTCCA	0.348000													3	11					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525838	248525838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248525838C>T	ENST00000366475.1	+	1	956	c.956C>T	c.(955-957)cCt>cTt	p.P319L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGTGAACCCTTTAATCTAT	0.458000													92	23					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969434	140969434	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:140969434A>G	ENST00000298296.1	+	4	761	c.761A>G	c.(760-762)aAc>aGc	p.N254S	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	254	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTTGTAAACACATTAGAC	0.468000													77	143					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41058287	41058287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:41058287C>T	ENST00000399564.4	-	7	1084	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGCCCGTGGGCCTTAACGATG	0.502000													8	14					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80546088	80546088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:80546088G>A	ENST00000265361.3	-	2	571	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R4W|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R22W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	4					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAAATTGTCCGGAATGCCATT	0.358000													46	58					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102963025	102963025	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102963025G>A	ENST00000379263.3	-	9	1116	c.866C>T	c.(865-867)gCc>gTc	p.A289V	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289V	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	289					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ttctttcttggctttttcttc	0.328000													9	14					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132689581	132689581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:132689581C>T	ENST00000420781.1	-	8	900	c.682G>A	c.(682-684)Gga>Aga	p.G228R	FNBP1_ENST00000446176.2_Missense_Mutation_p.G228R|FNBP1_ENST00000355681.3_Missense_Mutation_p.G228R			Q96RU3	FNBP1_HUMAN	formin binding protein 1	228	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATGGACTCTCCCATTCTCACA	0.383000			T	MLL	AML								98	48					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104120437	104120437	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:104120437G>A	ENST00000361355.4	+	11	1932	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	439					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAGGAAACAGAGGATTCATT	0.358000													82	99					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31910824	31910824	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31910824C>T	ENST00000456570.1	+	7	904	c.849C>T	c.(847-849)gcC>gcT	p.A283A	CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Silent_p.A436A|CFB_ENST00000556679.1_Silent_p.A283A|C2_ENST00000469372.1_Silent_p.A190A|C2_ENST00000442278.2_Silent_p.A304A|C2_ENST00000452323.2_Silent_p.A222A			P00751	CFAB_HUMAN	complement factor B	452	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAGGCATGCCTTCATTCTGC	0.557000													91	73					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372458	48372458	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48372458G>A	ENST00000380518.3	-	42	2981	c.2817C>T	c.(2815-2817)ggC>ggT	p.G939G	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G870G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	939	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACCAGCTCGGCCAGGGGGGC	0.637000													18	31					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54792341	54792341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54792341C>T	ENST00000545554.1	+	20	5125	c.5125C>T	c.(5125-5127)Cat>Tat	p.H1709Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.H1709Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H1707Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1709	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAATTCCTTCATGGAGCACT	0.348000													7	12					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139160925	139160925	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139160925A>G	ENST00000395297.1	-	14	3456	c.3286T>C	c.(3286-3288)Tat>Cat	p.Y1096H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1096										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGCCTGATAAAAACTGGAG	0.388000										HNSCC(54;0.14)			16	20					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359329	66359329	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66359329G>A	ENST00000333861.3	-	1	1225	c.1158C>T	c.(1156-1158)acC>acT	p.T386T		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	386										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGGTGACGGGTCACAACCC	0.607000													32	42					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140997101	140997101	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:140997101C>T	ENST00000389484.3	-	88	14296	c.13324_splice	c.e88-1	p.R4442_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4442					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)		GGCAATGCTTCCTGGAaaata	0.313000										TSP Lung(27;0.18)			7	13					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186794	140186794	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140186794G>C	ENST00000530339.1	+	1	22	c.22G>C	c.(22-24)Ggc>Cgc	p.G8R	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G8R|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G8R|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGAAGCGGCCAGGAATC	0.502000													43	72					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146798021	146798021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:146798021G>A	ENST00000343218.5	-	3	841	c.644C>T	c.(643-645)aCc>aTc	p.T215I	DPYSL3_ENST00000398514.3_Missense_Mutation_p.T101I|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	101					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCATGGTGGTGCCACCTGC	0.433000													76	103					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476587	17476587	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17476587G>T	ENST00000252590.4	-	3	748	c.687C>A	c.(685-687)gaC>gaA	p.D229E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	229						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTGTCCTTGTCCAGGGGCA	0.577000													41	55					1.04594e-18	1.06637e-18	1	1	0
MYO1C	4641	broad.mit.edu	37	17	1387540	1387540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1387540G>A	ENST00000359786.5	-	2	457	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MYO1C_ENST00000438665.2_Missense_Mutation_p.R26W|MYO1C_ENST00000575158.1_Missense_Mutation_p.R10W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R10W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R21W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	45	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCCCACCCGGTCACGGGCG	0.632000													14	26					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617000													4	69					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509869	169509869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169509869G>A	ENST00000367796.3	-	13	4675	c.4474C>T	c.(4474-4476)Ctt>Ttt	p.L1492F	F5_ENST00000367797.3_Missense_Mutation_p.L1487F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1487	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATCTGACCAAGGTCTGGATAA	0.398000													17	32					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746081	77746081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:77746081G>A	ENST00000409088.3	-	3	1328	c.914C>T	c.(913-915)tCc>tTc	p.S305F	LRRTM4_ENST00000409282.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S305F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S305F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	305						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAATGTGATGGATATTAATGA	0.353000													11	16					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996585	140996585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:140996585C>T	ENST00000285879.4	+	4	3681	c.3395C>T	c.(3394-3396)tCc>tTc	p.S1132F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S199F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1132							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCAAGCTCCAGTGTCATG	0.507000										HNSCC(15;0.026)			37	51					0	0	1	0	0
PGRMC2	10424	broad.mit.edu	37	4	129208548	129208548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:129208548C>T	ENST00000520121.1	-	1	1436	c.470G>A	c.(469-471)gGc>gAc	p.G157D	PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.G133D	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		GAACTTGCTGCCTTTGGTCAC	0.642000													12	17					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	406992	406992	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:406992C>T	ENST00000432829.2	+	28	3565	c.3249C>T	c.(3247-3249)tcC>tcT	p.S1083S	DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000382329.1_Silent_p.S618S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTGACTTCCGAGTACCGCC	0.527000													105	26					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240964793	240964793	+	Missense_Mutation	SNP	C	C	T	rs141557672	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240964793C>T	ENST00000366565.1	-	17	1756	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.D459N|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000331110.7_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCTGCGATCCATTGAGTTT	0.333000													17	4					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44051778	44051778	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:44051778G>A	ENST00000344290.5	+	4	570	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MAPT_ENST00000574436.1_Missense_Mutation_p.G83E|MAPT_ENST00000571987.1_Missense_Mutation_p.G83E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.G83E|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83E|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83E|MAPT_ENST00000340799.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	83					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GTGGATGAGGGAGCTCCCGGC	0.622000													10	9					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062478	46062478	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46062478G>A	ENST00000309285.3	-	2	1318	c.962C>T	c.(961-963)tCc>tTc	p.S321F	XCR1_ENST00000542109.1_Missense_Mutation_p.S321F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	321					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCACCAGGGGAGTGGGGGAT	0.647000													6	13					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1387541	1387541	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1387541G>A	ENST00000359786.5	-	2	456	c.132C>T	c.(130-132)gaC>gaT	p.D44D	MYO1C_ENST00000438665.2_Silent_p.D25D|MYO1C_ENST00000575158.1_Silent_p.D9D|MYO1C_ENST00000361007.2_Silent_p.D9D|MYO1C_ENST00000545534.2_Silent_p.D20D	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	44	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCCACCCGGTCACGGGCGG	0.637000													14	26					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320538	56320538	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56320538C>T	ENST00000443188.1	-	5	2148	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	NLRP11_ENST00000360133.3_Missense_Mutation_p.E480K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E381K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E480K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E480K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	480							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTCTCTTCTCTTTATACTCT	0.393000													30	61					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58864480	58864480	+	Missense_Mutation	SNP	G	G	A	rs144181716		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58864480G>A	ENST00000263100.3	-	3	215	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	52	Ig-like V-type 1.		H -> R (in dbSNP:rs893184).			extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GTCTCCAGGTGGGCCTGGCAC	0.602000													42	60					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30098369	30098369	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:30098369G>A	ENST00000380752.5	-	6	1112	c.726C>T	c.(724-726)ccC>ccT	p.P242P		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	242					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CACCAACACCGGGCTTCCCTT	0.547000													17	24					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543630	29543630	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29543630G>A	ENST00000389048.3	-	7	2439	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	511	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGTGGTCCTGGAACCGGGCAT	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				68	126					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692669	47692669	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47692669G>A	ENST00000397708.1	-	9	2525	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	MCM3AP_ENST00000291688.1_Silent_p.H757H			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	757					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGTGGGCACAGTGGATGTGAA	0.552000													64	33					0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892083	90892083	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:90892083C>T	ENST00000412799.2	-	1	586	c.347G>A	c.(346-348)gGg>gAg	p.G116E																								CACTCATTTCCCATAGACACT	0.527000													3	13					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39552765	39552765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:39552765G>A	ENST00000263881.3	-	12	1136	c.812C>T	c.(811-813)cCt>cTt	p.P271L	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	271	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTTACAAAAGGATGCTATAA	0.289000													17	31					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735571	164735571	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:164735571A>G	ENST00000264382.3	-	30	3673	c.3611T>C	c.(3610-3612)gTt>gCt	p.V1204A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1204	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			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)	CTTTGTTGCAACTTCTGGAGT	0.333000										HNSCC(35;0.089)			13	24					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220649	153220649	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153220649C>T	ENST00000310441.7	-	17	4167	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	HCFC1_ENST00000369984.4_Silent_p.Q1067Q|HCFC1_ENST00000354233.3_Silent_p.Q998Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1067					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTACCATTCTGCTGGCCCA	0.642000													38	56					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793292	36793292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:36793292C>T	ENST00000399881.3	+	27	3341	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1102						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTCTCTTTTCCTAAGCAAAT	0.373000													48	65					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4638418	4638418	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4638418C>T	ENST00000293778.6	-	4	1166	c.744G>A	c.(742-744)agG>agA	p.R248R	CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Silent_p.R248R	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	229					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						GCCCCCTCCTCCTCTTGCACA	0.612000													24	21					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75199689	75199689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:75199689G>A	ENST00000413679.2	+	10	1350	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	SEC14L1_ENST00000430767.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.M349I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.M315I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.M349I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.M315I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	349	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGGCAGATGGACACCAAAG	0.587000													6	15					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979238	107979238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107979238C>T	ENST00000372129.2	-	1	413	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	113	PH.					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						CTGGCATTTTCGTAGTATTCC	0.667000													45	61					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773134	140773134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140773134C>T	ENST00000398604.2	+	1	754	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAAAGTCCTTGAGAACAT	0.522000													37	73					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54795370	54795370	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:54795370C>T	ENST00000293379.4	-	23	2647	c.2387_splice	c.e23+1	p.G796_splice	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	796					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.G796C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGCACTGACCCGTTCAGGGTG	0.562000													59	91					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704301	40704301	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40704301C>T	ENST00000253055.3	+	2	990	c.702C>T	c.(700-702)atC>atT	p.I234I	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	234	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGGAGGCCATCGAGAACCACA	0.637000													20	31					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41652030	41652030	+	Silent	SNP	G	G	A	rs150178245	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:41652030G>A	ENST00000455915.2	-	9	2537	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	RANGAP1_ENST00000356244.3_Silent_p.S356S|RANGAP1_ENST00000407260.4_Silent_p.S301S|RANGAP1_ENST00000405486.1_Silent_p.S356S			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	356					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTACCTGAGGGACGCCAGCA	0.577000													23	28					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34542830	34542830	+	Splice_Site	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:34542830A>C	ENST00000354181.3	-	12	2084		c.e12+1		SLC12A6_ENST00000458406.2_Splice_Site|SLC12A6_ENST00000397702.2_Splice_Site|SLC12A6_ENST00000397707.2_Splice_Site|SLC12A6_ENST00000290209.5_Splice_Site|SLC12A6_ENST00000558667.1_Splice_Site|SLC12A6_ENST00000451844.2_Splice_Site|SLC12A6_ENST00000560611.1_Splice_Site|SLC12A6_ENST00000558589.1_Splice_Site|SLC12A6_ENST00000560164.1_Splice_Site			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAAAAAGGATACAAACAAAGG	0.408000													12	44					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945214	4945214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4945214G>A	ENST00000321961.2	-	1	423	c.356C>T	c.(355-357)tCc>tTc	p.S119F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGACATGGATAACAGAAC	0.493000													22	37					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62521962	62521962	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62521962C>T	ENST00000556440.2	+	9	1494	c.984C>T	c.(982-984)gtC>gtT	p.V328V	CEP95_ENST00000553412.1_Silent_p.V164V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	328						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CAGCTCAGGTCCAAGGGCCTA	0.393000													4	22					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139505	101139505	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101139505C>T	ENST00000458570.1	-	9	1711	c.381G>A	c.(379-381)aaG>aaA	p.K127K	ZMAT1_ENST00000372782.3_Silent_p.K298K|ZMAT1_ENST00000540921.1_Silent_p.K298K|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	127						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATGTCTTCTTTGAATGAG	0.378000													50	118					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56491581	56491581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56491581C>T	ENST00000267101.3	+	21	2913	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F	ERBB3_ENST00000450146.2_Missense_Mutation_p.L182F|ERBB3_ENST00000415288.2_Missense_Mutation_p.L766F|ERBB3_ENST00000553131.1_Missense_Mutation_p.L66F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	825	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATGTACTACCTTGAGGAACA	0.483000													46	106					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118284	106118284	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:106118284A>G	ENST00000369704.3	+	2	329	c.195A>G	c.(193-195)agA>agG	p.R65R	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	65										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCAAATGCAGAGAGCTAAATG	0.428000													18	34					0	0	1	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30376483	30376483	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30376483G>A	ENST00000409939.3	-	3	1187	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	369	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGTACTGCCAGGCTTTGGCTC	0.587000													22	34					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380100	231380100	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380100C>T	ENST00000264052.5	+	25	2740	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	795					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGCCTGTCCATTGATGATG	0.463000													21	22					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306990	120306990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120306990C>T	ENST00000369406.3	-	2	413	c.364G>A	c.(364-366)Gac>Aac	p.D122N	HMGCS2_ENST00000544913.2_Missense_Mutation_p.D122N|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	122					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCCACAGAGTCCCATGGGAGC	0.552000													23	72					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132891023	132891023	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:132891023C>T	ENST00000372406.1	+	19	2196	c.1689C>T	c.(1687-1689)gaC>gaT	p.D563D	GPR107_ENST00000372410.3_Silent_p.D534D|GPR107_ENST00000347136.6_Silent_p.D515D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	563						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGAAGAAGACTTGGAAATGG	0.483000													80	27					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129063382	129063382	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129063382C>T	ENST00000394422.3	+	15	2142	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	UTP14A_ENST00000371042.3_Missense_Mutation_p.S537F|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.S651F|UTP14A_ENST00000425117.2_Missense_Mutation_p.S653F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	705					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCCATAGGATCCACATGGAAC	0.488000													50	99					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56494202	56494202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56494202G>A	ENST00000370754.5	-	31	4221	c.4222C>T	c.(4222-4224)Cat>Tat	p.H1408Y	DST_ENST00000244364.6_Missense_Mutation_p.H904Y|DST_ENST00000312431.6_Missense_Mutation_p.H1230Y|DST_ENST00000361203.3_Missense_Mutation_p.H1230Y|DST_ENST00000518935.1_Missense_Mutation_p.H904Y|DST_ENST00000421834.2_Missense_Mutation_p.H1230Y|DST_ENST00000446842.2_Missense_Mutation_p.H904Y|DST_ENST00000370769.4_Missense_Mutation_p.H1230Y|DST_ENST00000370765.6_Missense_Mutation_p.H904Y|DST_ENST00000370788.2_Missense_Mutation_p.H1230Y			Q03001	DYST_HUMAN	dystonin	1230					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGGCATGGAATACCTGT	0.338000													15	52					0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33135676	33135676	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:33135676G>A	ENST00000342462.4	-	2	202	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	4						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						ACAGCTGCCTGAAGATGGCCA	0.572000													25	41					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608422	177608422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:177608422G>A	ENST00000280193.2	-	6	1479	c.1064C>T	c.(1063-1065)cCt>cTt	p.P355L	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	355	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACATTTTCCAGGATTTAGGGG	0.438000													42	114					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27312077	27312077	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:27312077C>T	ENST00000397501.1	+	35	3571	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PTK2B_ENST00000517339.1_Silent_p.I879I|PTK2B_ENST00000420218.2_Silent_p.I879I|PTK2B_ENST00000338238.4_Silent_p.I879I|PTK2B_ENST00000346049.5_Silent_p.I921I|PTK2B_ENST00000544172.1_Silent_p.I921I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	921	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.I921I(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAAGCTCATCGGGAGCGTGG	0.597000													16	18					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131191230	131191230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131191230C>T	ENST00000372842.1	+	9	3895	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CERCAM_ENST00000372838.4_Missense_Mutation_p.R329C			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	329					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGCCTGGCTCGCAGGCCTGA	0.652000													9	2					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781358	3781358	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3781358G>A	ENST00000262367.5	-	30	5816	c.5007C>T	c.(5005-5007)acC>acT	p.T1669T	CREBBP_ENST00000382070.3_Silent_p.T1631T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1669	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCTGGCGAGGGTGAGGAAGG	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	10					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70993476	70993476	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70993476C>T	ENST00000357250.6	-	6	902	c.744G>A	c.(742-744)agG>agA	p.R248R	COL9A1_ENST00000370496.3_Silent_p.R248R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	248	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGTTTCTCTCCTGGGCCGCA	0.527000													9	3					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280493	280493	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:280493C>A	ENST00000534750.1	+	4	964	c.759C>A	c.(757-759)atC>atA	p.I253I	NLRP6_ENST00000312165.5_Silent_p.I253I	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	253	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGACCTGATCCTGGACCAGT	0.731000													8	11					0.000442599	0.000443662	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42731746	42731746	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42731746G>A	ENST00000263805.4	-	8	4286	c.3960C>T	c.(3958-3960)acC>acT	p.T1320T	ZNF106_ENST00000565611.1_Silent_p.T505T|ZNF106_ENST00000565380.1_Silent_p.T548T	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTCCAAAGGGGTTTCTGAAG	0.453000													26	52					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628270	46628270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46628270A>C	ENST00000470495.1	-	2	2169	c.722T>G	c.(721-723)aTg>aGg	p.M241R	HOXB3_ENST00000311626.4_Missense_Mutation_p.M241R|HOXB3_ENST00000472863.1_Missense_Mutation_p.M168R|HOXB3_ENST00000476342.1_Missense_Mutation_p.M241R|HOXB3_ENST00000485909.2_Missense_Mutation_p.M109R|HOXB3_ENST00000460160.1_Missense_Mutation_p.M109R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.M107R|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.M241R|HOXB3_ENST00000489475.1_Missense_Mutation_p.M168R			P14651	HXB3_HUMAN	homeobox B3	241					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGTACTTCATGCGCCGGTT	0.637000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	82					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102465488	102465488	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:102465488C>T	ENST00000260228.2	-	7	966	c.953_splice	c.e7-1	p.R318_splice	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	318	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCAGAAAATCCTATGGGACA	0.418000													9	19					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715623	15715623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15715623G>A	ENST00000396368.3	-	12	2812	c.2606C>T	c.(2605-2607)aCc>aTc	p.T869I	KIAA0430_ENST00000551742.1_Missense_Mutation_p.T869I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T704I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T538I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	868	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGCAGCCCCGGTGGCAAGTGA	0.413000													26	33					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535388	24535388	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24535388C>T	ENST00000264463.4	-	5	1154	c.646_splice	c.e5-1	p.G216_splice		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	216	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTGATGATACCTTGAGAAAA	0.368000										HNSCC(23;0.051)			18	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596985	179596985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179596985G>A	ENST00000589042.1	-	57	16935	c.16711C>T	c.(16711-16713)Cct>Tct	p.P5571S	TTN_ENST00000342992.6_Missense_Mutation_p.P4327S|TTN_ENST00000591111.1_Missense_Mutation_p.P5254S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5254	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATTGGAGGGGTACCAGTT	0.428000													35	88					0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889466	55889466	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55889466C>T	ENST00000291934.3	+	5	447	c.429C>T	c.(427-429)agC>agT	p.S143S	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	143						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACGGGCAGCGTGCCAGTCG	0.647000													20	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600389	179600389	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179600389G>A	ENST00000589042.1	-	50	15008	c.14784C>T	c.(14782-14784)ctC>ctT	p.L4928L	TTN_ENST00000342992.6_Silent_p.L3684L|TTN_ENST00000591111.1_Silent_p.L4611L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4611	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCTGGGGGGAGTTTTTGCC	0.428000													19	30					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694842	60694842	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60694842G>A	ENST00000005286.4	+	2	420	c.267G>A	c.(265-267)agG>agA	p.R89R	TMEM132A_ENST00000453848.2_Silent_p.R89R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	89						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGGCCCAGGGCCCAGCCAC	0.632000													39	80					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919588	48919588	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48919588C>T	ENST00000310194.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCCATAAGCCCATGTATTTCT	0.473000													42	80					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109740457	109740457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:109740457C>T	ENST00000399132.1	-	36	2404	c.1874G>A	c.(1873-1875)gGg>gAg	p.G625E		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	625	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGCTCCCCTTTTTCCCC	0.458000													27	23					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12817450	12817450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12817450G>A	ENST00000425528.1	-	14	1787	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	TNPO2_ENST00000592287.1_Missense_Mutation_p.P477L|TNPO2_ENST00000356861.5_Missense_Mutation_p.P477L|TNPO2_ENST00000441499.1_Missense_Mutation_p.P477L|TNPO2_ENST00000588216.1_Missense_Mutation_p.P477L|TNPO2_ENST00000450764.2_Missense_Mutation_p.P477L			O14787	TNPO2_HUMAN	transportin 2	477					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTCATCAGGGGCTTGAGGTG	0.632000													15	25					0	0	1	0	0
AUH	549	broad.mit.edu	37	9	93983201	93983201	+	Silent	SNP	G	G	A	rs146636009		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:93983201G>A	ENST00000375731.4	-	7	752	c.729C>T	c.(727-729)ctC>ctT	p.L243L	AUH_ENST00000303617.5_Silent_p.L214L	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	243					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTTTGCCATCGAGGACTCGCG	0.582000													60	35					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35907888	35907888	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:35907888G>A	ENST00000325722.3	-	19	3063	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.A380A	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	943						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGATTCCCAAGGCAACAACAA	0.448000													40	89					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501985	140501985	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140501985G>A	ENST00000194152.1	+	1	405	c.405G>A	c.(403-405)agG>agA	p.R135R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		135					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTGAAAGGGAAGTGCTCT	0.408000													32	53					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260761	42260761	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42260761C>T	ENST00000199764.6	+	2	536	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	106	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCAATGCATCCCTGCTGATCC	0.463000													113	184					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13067879	13067879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:13067879G>A	ENST00000506447.1	+	22	4618	c.4538G>A	c.(4537-4539)gGa>gAa	p.G1513E	CEP192_ENST00000325971.8_Missense_Mutation_p.G917E|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038E	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1108										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGACTTATGGAGGCTGGAAA	0.343000													36	40					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964195	73964195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:73964195G>A	ENST00000373468.1	-	3	848	c.197C>T	c.(196-198)cCt>cTt	p.P66L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P66L			Q5QGS0	K2022_HUMAN	KIAA2022	66					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGGGTAGAGGCAGGAGACC	0.532000													27	42					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167113	6167113	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6167113G>A	ENST00000261405.5	-	14	1885	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	544	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCACCCGGGGCTCCGCCAG	0.657000													23	67					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696587	17696587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17696587C>T	ENST00000353383.1	+	3	794	c.325C>T	c.(325-327)Cca>Tca	p.P109S	RAI1_ENST00000261641.6_Missense_Mutation_p.P109S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	109						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCCCCTACCCAGGCCGCTA	0.677000													15	16					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20784021	20784021	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20784021G>A	ENST00000405555.3	-	7	1372	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	SCARF2_ENST00000266214.5_Silent_p.H434H	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	434					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACTTACCTAGGTGGCAGGCAC	0.652000													49	66					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44141076	44141076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44141076C>T	ENST00000542245.1	+	7	822	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	CAPN11_ENST00000398776.1_Missense_Mutation_p.L262F			Q9UMQ6	CAN11_HUMAN	calpain 11	262	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTCAGGCTCCTTAGGAAGGC	0.592000													6	28					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110783812	110783812	+	Silent	SNP	C	C	T	rs144955024	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110783812C>T	ENST00000395494.2	+	18	3230	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	ATP2A2_ENST00000539276.2_Silent_p.S916S|ATP2A2_ENST00000308664.6_Silent_p.S916S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCAGCTTGTCCGAAAACCAGT	0.572000													30	84					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	C	T	rs144570025		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20576154C>T	ENST00000329697.6	-	2	182	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R5Q(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000													18	32					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979269	58979269	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:58979269T>C	ENST00000361050.3	-	1	1155	c.1070A>G	c.(1069-1071)aAc>aGc	p.N357S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	357						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AAAATTGAAGTTGGGAGAATT	0.502000													34	64					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099935	50099935	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099935C>T	ENST00000418929.2	+	4	2355	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCATGGCCTCCTTCTGGAGG	0.711000													12	24					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67290916	67290916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67290916C>T	ENST00000299798.11	+	7	1300	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	412					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGGGCTGTGGCCTTTGCTCTC	0.552000													61	89					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26707344	26707344	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26707344C>T	ENST00000272371.2	-	12	1329	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	OTOF_ENST00000403946.3_Silent_p.E401E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	401					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCACCCCTCAATGTCAT	0.632000													12	16					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112564562	112564562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:112564562G>A	ENST00000398214.1	-	1	235	c.10C>T	c.(10-12)Cca>Tca	p.P4S	CD200R1L_ENST00000488794.1_5'UTR|CD200R1L_ENST00000448932.1_5'UTR	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	4						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AGTAATCTTGGAGCTGACATC	0.343000													28	64					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41165472	41165472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:41165472C>T	ENST00000380588.4	+	8	1163	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	354						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423000													54	28					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129352	52129352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52129352C>T	ENST00000222107.4	-	8	1535	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R466K|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R466K			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	466					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGCTTGCTTCCTGCGGGCTTT	0.527000													19	39					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119873	142119873	+	RNA	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142119873A>G	ENST00000390377.1	-	0	293																											CTGTGCGCTGAATCGTCAGAG	0.537000													44	63					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22106602	22106602	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22106602C>T	ENST00000397802.4	+	6	916	c.701C>T	c.(700-702)gCt>gTt	p.A234V	POLR3D_ENST00000306433.4_Missense_Mutation_p.A234V			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	234					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAGATGAAGGCTCCTCCCAAA	0.567000													33	23					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793577	17793577	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:17793577C>T	ENST00000379472.3	+	2	966	c.936C>T	c.(934-936)gtC>gtT	p.V312V	KCNC1_ENST00000265969.6_Silent_p.V312V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	312						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCCTGCGCGTCGTCCGCTTCG	0.632000													16	30					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491536	71491536	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71491536T>A	ENST00000296755.7	+	5	2652	c.2354T>A	c.(2353-2355)aTt>aAt	p.I785N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	785	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATAAAAGTCATTAAGAAGGAA	0.522000													33	65					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377192	104377192	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:104377192T>A	ENST00000535008.1	+	4	640	c.516T>A	c.(514-516)tgT>tgA	p.C172*	LHFPL3_ENST00000401970.2_Nonsense_Mutation_p.C158*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.C172*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.C158*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	158						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AACGGATGTGTGGAGAAAAGA	0.463000													10	21					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238548	205238548	+	Silent	SNP	C	C	T	rs138392378	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205238548C>T	ENST00000358024.3	+	3	1607	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	TMCC2_ENST00000329800.7_Silent_p.V166V|TMCC2_ENST00000545499.1_Silent_p.V328V|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.V181V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	406						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)			TGGAGGGCGTCAAGGGCAGCC	0.677000													26	37					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553841	113553841	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:113553841G>A	ENST00000546530.1	-	10	1032	c.747C>T	c.(745-747)gcC>gcT	p.A249A	RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCACTCGCAGGGCACCCAGGT	0.582000													48	18					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102792613	102792613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:102792613C>T	ENST00000262236.5	+	2	587	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ZNF839_ENST00000559185.1_Missense_Mutation_p.P78S|ZNF839_ENST00000558850.1_Missense_Mutation_p.P78S|ZNF839_ENST00000442396.2_Missense_Mutation_p.P194S	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	78						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAAGAGAGTCCCAGCCCCCAA	0.567000													8	18					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002338	20002338	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002338C>T	ENST00000589717.1	+	4	374	c.282C>T	c.(280-282)ttC>ttT	p.F94F	ZNF253_ENST00000355650.4_Silent_p.F18F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	94					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAATTCTTTCCAAATAGGGA	0.368000													10	23					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	438016	438016	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:438016C>T	ENST00000399788.2	-	14	2315	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	KDM5A_ENST00000382815.4_Silent_p.E651E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	651					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTACAACAGACTCTCTTAATC	0.408000			T	NUP98	AML								13	25					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71869364	71869364	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:71869364G>A	ENST00000600472.1	-	1	278	c.279C>T	c.(277-279)acC>acT	p.T93T	TJP2_ENST00000539225.1_3'UTR|TJP2_ENST00000348208.4_3'UTR|TJP2_ENST00000535702.1_3'UTR|TJP2_ENST00000377245.4_3'UTR|TJP2_ENST00000453658.2_3'UTR																							CCGCCGGGATGGTTCTTCTCC	0.577000													9	1					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954459	954459	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:954459G>A	ENST00000273814.3	-	23	2851	c.2778C>T	c.(2776-2778)acC>acT	p.T926T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	926					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGCATCCCTGGTGGTCCCGG	0.677000													20	25					0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811603	102811603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:102811603C>T	ENST00000307046.8	-	4	762	c.581G>A	c.(580-582)gGa>gAa	p.G194E	IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000392904.1_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	194					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CCTTCATTTTCCTTTTTTGCC	0.438000													215	67					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223179117	223179117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:223179117C>T	ENST00000284476.6	+	8	4542	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1460					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCAGAATGAACCAAAAGTCCT	0.443000													32	16					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16890267	16890267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:16890267G>A	ENST00000524140.2	+	12	3140	c.2722G>A	c.(2722-2724)Gga>Aga	p.G908R	NWD1_ENST00000552788.1_Missense_Mutation_p.G908R|NWD1_ENST00000549814.1_Missense_Mutation_p.G908R|NWD1_ENST00000523826.1_Missense_Mutation_p.G702R|NWD1_ENST00000379808.3_Missense_Mutation_p.G908R|NWD1_ENST00000339803.6_Missense_Mutation_p.G773R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	908							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGCTAACTGGACACACAGG	0.527000											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	61					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188845	8188845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:8188845C>T	ENST00000600128.1	-	23	3193	c.2779G>A	c.(2779-2781)Ggg>Agg	p.G927R	FBN3_ENST00000270509.2_Missense_Mutation_p.G927R|FBN3_ENST00000601739.1_Missense_Mutation_p.G927R			Q75N90	FBN3_HUMAN	fibrillin 3	927	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGTGACCCCACACTCATCC	0.637000													16	9					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876315	35876315	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35876315C>T	ENST00000303115.3	+	8	1236	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	369					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCTCACATGCCTGGCTGGGA	0.547000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						16	37					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122791435	122791435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:122791435G>A	ENST00000264499.4	-	1	217	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q12*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	12					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGGTTTACCTGCAGATAATCC	0.597000									Bardet-Biedl syndrome				15	44					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815606	158815606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158815606C>T	ENST00000368141.4	+	5	1061	c.800C>T	c.(799-801)aCc>aTc	p.T267I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	267	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGGTCATTACCATATCTGAT	0.348000													6	32					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110567269	110567269	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:110567269C>T	ENST00000338882.4	-	5	980	c.981G>A	c.(979-981)aaG>aaA	p.K327K	CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	327						extracellular region											GCCTGAAATCCTTTTGTTCTA	0.433000													21	18					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572108	53572108	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53572108G>A	ENST00000601421.1	-	3	2447	c.1571C>T	c.(1570-1572)tCt>tTt	p.S524F	ZNF160_ENST00000418871.1_Missense_Mutation_p.S560F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S560F|ZNF160_ENST00000599056.1_Missense_Mutation_p.S560F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	560					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCTCTCCAGAATGAATTCC	0.403000													40	70					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826823	92826823	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92826823T>A	ENST00000394468.2	-	5	1190	c.1113A>T	c.(1111-1113)ctA>ctT	p.L371L	HEPACAM2_ENST00000341723.4_Silent_p.L359L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Silent_p.L359L|HEPACAM2_ENST00000453812.2_Silent_p.L394L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	371						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATTTTTTCCATAGGAAGAGAA	0.308000													22	28					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831733	110831733	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:110831733A>G	ENST00000375820.4	-	30	2350	c.2229T>C	c.(2227-2229)ggT>ggC	p.G743G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	743	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GACCTGGCAAACCTTTGAGTC	0.537000													30	57					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216688	3216688	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:3216688A>C	ENST00000520002.1	-	22	3848	c.3293T>G	c.(3292-3294)cTg>cGg	p.L1098R	CSMD1_ENST00000602723.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1098R|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1097R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1098	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCTTGGCAGAGGTGCACT	0.592000													21	52					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116598334	116598334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:116598334C>T	ENST00000410059.1	+	25	2671	c.2191C>T	c.(2191-2193)Cat>Tat	p.H731Y	DPP10_ENST00000393147.2_Missense_Mutation_p.H735Y|DPP10_ENST00000310323.8_Missense_Mutation_p.H724Y|DPP10_ENST00000409163.1_Missense_Mutation_p.H681Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	731					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAAAAGTTCATTTCCAACA	0.323000													22	29					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254208	44254208	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44254208G>A	ENST00000371505.4	-	3	461	c.339C>T	c.(337-339)tcC>tcT	p.S113S	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	113										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGGTCAGGGGACAGGTGGT	0.597000													56	73					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9665463	9665463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:9665463C>T	ENST00000217964.7	+	12	1748	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	TBL1X_ENST00000536365.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000380961.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000407597.2_Missense_Mutation_p.H370Y|TBL1X_ENST00000424279.1_Missense_Mutation_p.H319Y	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	370					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GTTTCCTTTTCATTCAGGTGA	0.383000													63	70					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020182	55020182	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:55020182G>A	ENST00000324000.3	+	1	2139	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	35					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCCTGAAAAAGGAGAACATCT	0.592000													28	52					0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93911558	93911558	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93911558C>T	ENST00000227638.3	+	3	730	c.345C>T	c.(343-345)ctC>ctT	p.L115L	PANX1_ENST00000436171.2_Silent_p.L115L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	115					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTGCTGCTCTTTGCGATCC	0.478000													30	44					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42466780	42466780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:42466780G>A	ENST00000381668.5	-	27	2777	c.2546C>T	c.(2545-2547)gCc>gTc	p.A849V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A834V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	849					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAGTTCCAGGCACCATGAAT	0.328000													15	43					0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42940391	42940391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42940391C>T	ENST00000529687.1	+	9	1541	c.653C>T	c.(652-654)aCa>aTa	p.T218I	FNTA_ENST00000302279.3_Missense_Mutation_p.T369I|FNTA_ENST00000342116.4_Missense_Mutation_p.T302I			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	369					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAACACAGCACAGAAAATGAC	0.358000													18	32					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488496	108488496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:108488496G>A	ENST00000408999.3	+	20	4113	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1346K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1346	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATCTAGTTGAAGTATCCAG	0.398000													107	163					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126715549	126715549	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715549G>A	ENST00000309035.6	-	1	910	c.780C>T	c.(778-780)gcC>gcT	p.A260A	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	413					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGCTTTCCCGGGCAGGCCCGT	0.647000													29	44					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026303	197026303	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:197026303C>T	ENST00000367412.1	-	7	1054	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	337	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGGGTGGTTCCTCACAGGCTA	0.398000													23	25					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428813	120428813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:120428813C>T	ENST00000222747.3	-	8	1358	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TSPAN12_ENST00000415871.1_Missense_Mutation_p.D251N	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	251					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TCCCTTCTATCATAATACAGA	0.488000													31	55					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64737987	64737987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:64737987C>T	ENST00000374811.3	-	12	1847	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	LAS1L_ENST00000374804.5_Missense_Mutation_p.E544K|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E586K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	603						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATTCTGtcttcctcttcatca	0.527000													20	25					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39806365	39806365	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:39806365C>T	ENST00000564288.1	+	39	11184	c.10407C>T	c.(10405-10407)ttC>ttT	p.F3469F	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.F1909F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.F3506F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F3474F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3474					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACTCCACTTCCAGAATGCTG	0.418000													18	5					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78701047	78701047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:78701047G>A	ENST00000436010.2	-	17	3527	c.2530C>T	c.(2530-2532)Caa>Taa	p.Q844*	ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q883*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q847*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q847*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	883	Fibronectin type-III 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGCTGACTTGGTCCTCAGGT	0.488000													55	74					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697064	169697064	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169697064C>T	ENST00000333360.7	-	9	1423	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	SELE_ENST00000367777.1_Intron|SELE_ENST00000367780.4_Silent_p.V303V|SELE_ENST00000367781.4_Silent_p.V365V|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Silent_p.V365V|SELE_ENST00000367779.4_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367775.1_Silent_p.V303V|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	428					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATCGCATCTCACAGCTGGAA	0.488000													20	45					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34149697	34149697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:34149697C>T	ENST00000588240.1	+	6	459	c.344C>T	c.(343-345)tCa>tTa	p.S115L	AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.S112L|TAF15_ENST00000592237.1_Missense_Mutation_p.S24L|AC015849.19_ENST00000588415.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	115	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAACAAGATTCATATGACCAG	0.413000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								19	18					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686756	100686756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100686756G>A	ENST00000306151.4	+	3	12123	c.12059G>A	c.(12058-12060)gGc>gAc	p.G4020D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4020						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCAGAGGCTGCACTACT	0.522000													57	90					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995562	32995562	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32995562G>A	ENST00000330953.5	+	2	816	c.648G>A	c.(646-648)ggG>ggA	p.G216G		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	216					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCCCCTTAGGGATCATGCTGT	0.473000													41	66					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CTGGCCCCGGGAAAATGTCCC	0.602000													10	17					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347413	72347413	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72347413C>T	ENST00000299687.5	+	1	4438	c.4438C>T	c.(4438-4440)Ccg>Tcg	p.P1480S	ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480S|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGAGCTTCCGGAGGGAGG	0.468000													10	11					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189633	53189633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53189633C>T	ENST00000417996.2	-	1	268	c.194G>A	c.(193-195)aGc>aAc	p.S65N	KRT3_ENST00000309505.3_Missense_Mutation_p.S65N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	65	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GATGGAGATGCTCTTGTTGCC	0.672000													57	92					0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118007835	118007835	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118007835C>T	ENST00000324727.4	-	5	740	c.593_splice	c.e5-1	p.K198_splice	SCN4B_ENST00000423160.2_5'UTR|SCN4B_ENST00000529878.1_Splice_Site_p.K64_splice	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	198						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		GACACTCCTTCCTGGAGAGGG	0.602000													11	20					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64165303	64165303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64165303C>T	ENST00000247225.6	-	2	852	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	253						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGAGTGCATTCCCATGTAAAT	0.299000													19	22					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080935	126080935	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:126080935T>C	ENST00000368364.3	+	5	1198	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	HEY2_ENST00000368365.1_Missense_Mutation_p.V288A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	334					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGACAGAAGTTGGAGCTTTT	0.473000													4	41					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438543	48438543	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48438543G>A	ENST00000224605.2	-	1	433	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	56					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGCCGCTGGAGATCCCTGT	0.711000													4	9					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64785068	64785068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:64785068G>A	ENST00000413366.3	+	16	1851	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	609	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGAGAACAGGGAGATCCAGCC	0.572000													33	37					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681075	106681075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:106681075G>A	ENST00000526355.1	-	5	1804	c.1336C>T	c.(1336-1338)Cat>Tat	p.H446Y	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.H467Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.H446Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	446					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.H446Y(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGGCATCATGGATAGGGATG	0.443000													22	50					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444383	20444383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20444383C>T	ENST00000305051.5	+	1	781	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L236I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGTTCCTTTCTCCTCTTGGT	0.463000													58	78					0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18724858	18724858	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:18724858G>A	ENST00000377452.3	+	5	772	c.592G>A	c.(592-594)Ggg>Agg	p.G198R		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	198					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						TGCCAGCAGCGGGGCTGAGGG	0.537000													13	38					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142506529	142506529	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142506529C>T	ENST00000430863.1	-	0	233					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ACCATCTGTCCCTGCGGGCAG	0.577000													13	41					0	0	1	0	0
C12orf45	121053	broad.mit.edu	37	12	105381946	105381946	+	Splice_Site	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:105381946T>G	ENST00000552951.1	+	2	160	c.115_splice	c.e2-1	p.G39_splice	C12orf45_ENST00000280749.5_Splice_Site_p.G39_splice	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	39										large_intestine(1)|lung(2)	3						TATTTTCAGGTATATGGGACA	0.433000													15	3					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620819	56620819	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56620819G>A	ENST00000321691.3	-	1	910	c.729C>T	c.(727-729)gtC>gtT	p.V243V	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	243										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTACAGGGACCCTTCTCT	0.478000													43	79					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121756701	121756701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:121756701G>A	ENST00000393376.1	-	7	975	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	AASS_ENST00000417368.2_Missense_Mutation_p.R294C|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	294	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTATTAAAACGACTTATGTAG	0.388000													29	46					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977705	196977705	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:196977705G>A	ENST00000367414.5	+	10	1730	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G	CFHR5_ENST00000256785.4_Silent_p.G534G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	534	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAAAAACAGGGGATGCTGTTG	0.358000													31	25					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906992	164906992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:164906992G>A	ENST00000475390.1	-	2	2070	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P543S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	543						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						CCAGCCACGGGAAGATAGAGG	0.507000										HNSCC(40;0.11)			14	33					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1323210	1323210	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1323210G>A	ENST00000400809.3	-	10	1163	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	CCNL2_ENST00000408952.5_Silent_p.S164S|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	386	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCTGCTCACGGCTCCGGCTCC	0.632000													12	9					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369531	135369531	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:135369531C>T	ENST00000368517.3	-	9	579	c.441G>A	c.(439-441)aaG>aaA	p.K147K	SYCE1_ENST00000343131.5_Silent_p.K183K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.K147K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	183					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACAAATCTCCTTTGCCAGCC	0.557000													39	50					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004096	41004096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:41004096G>A	ENST00000308423.2	+	1	896	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	246					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGTGGGCTTGGAGCTGCTAGT	0.622000													26	39					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008876	120008876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120008876C>T	ENST00000371311.3	-	1	903	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	217										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCCGCGGGCTCCCTGGCCATC	0.697000													59	90					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067347	103067347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:103067347G>A	ENST00000264260.2	+	11	1839	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.W275*	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	417	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TATGCAAAATGGAGCTCTTTT	0.343000													36	59					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954460	954460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:954460G>A	ENST00000273814.3	-	23	2850	c.2777C>T	c.(2776-2778)aCc>aTc	p.T926I		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	926					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCATCCCTGGTGGTCCCGGC	0.672000													20	25					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4702711	4702711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:4702711C>T	ENST00000262960.9	-	8	1064	c.787G>A	c.(787-789)Gat>Aat	p.D263N	DPP9_ENST00000598800.1_Missense_Mutation_p.D234N|DPP9_ENST00000594671.1_Missense_Mutation_p.D234N|DPP9_ENST00000597849.1_Missense_Mutation_p.D263N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	234					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTGGGGTCATCCAGGACATTG	0.592000													10	1					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502771	140502771	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140502771G>A	ENST00000194152.1	+	1	1191	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTTTGAAGAATTTTTACA	0.448000													25	39					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74516716	74516716	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74516716C>T	ENST00000394009.3	+	8	1227	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.H93H	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		ATGCTCTGCACCAAGTGAAGC	0.408000													26	31					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997399	115997399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:115997399C>T	ENST00000264363.2	-	2	1472	c.794G>A	c.(793-795)gGa>gAa	p.G265E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	265	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCTGAATTCCATCATGAAG	0.433000													54	68					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183887862	183887862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:183887862C>T	ENST00000313143.3	+	14	1815	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	DVL3_ENST00000431765.1_Missense_Mutation_p.P506S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	523					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CACACTGGCCCCTTTGCCGCA	0.677000													21	46					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17877568	17877568	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17877568C>A	ENST00000594202.1	+	7	564	c.285C>A	c.(283-285)ctC>ctA	p.L95L	FCHO1_ENST00000252771.7_Silent_p.L95L|FCHO1_ENST00000596951.1_Silent_p.L95L|FCHO1_ENST00000539407.1_Silent_p.L95L|FCHO1_ENST00000595033.1_Silent_p.L45L|FCHO1_ENST00000597512.1_Silent_p.L102L|FCHO1_ENST00000389133.4_Silent_p.L95L|FCHO1_ENST00000596536.1_Silent_p.L95L|FCHO1_ENST00000600676.1_Silent_p.L95L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	95										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TACAGGATCTCATCAAGGACG	0.647000													23	15					2.39556e-15	2.43492e-15	1	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881362	108881362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:108881362C>T	ENST00000329106.2	+	6	703	c.703C>T	c.(703-705)Cac>Tac	p.H235Y		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	235						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AATCATCTATCACACCTCCTT	0.418000													32	46					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978264	45978264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45978264G>A	ENST00000391620.1	-	1	379	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	112	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						gcagcagacgggcacacagca	0.647000													102	52					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270782	113270782	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113270782C>T	ENST00000303941.3	+	8	2185	c.2091C>T	c.(2089-2091)caC>caT	p.H697H		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	697							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CACCCGCCCACCTGGCCGCCC	0.627000													24	29					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21565462	21565462	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:21565462G>A	ENST00000382592.4	-	3	829	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	LATS2_ENST00000542899.1_Silent_p.L142L|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	142					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCGGGTCCAGGTAGCCCATC	0.582000													21	45					0	0	1	0	0
NRG4	145957	broad.mit.edu	37	15	76254278	76254278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:76254278C>T	ENST00000394907.3	-	4	323	c.142G>A	c.(142-144)Gtt>Att	p.V48I	NRG4_ENST00000535975.1_Missense_Mutation_p.V48I	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	48						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						GGGAGAAAAACCTCTTCACAA	0.388000													37	61					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603485	52603485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:52603485C>T	ENST00000521776.2	+	2	1278	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	182					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCAAGAACTCCCCTGGAGCAG	0.532000													28	38					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558361	53558361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53558361G>A	ENST00000371494.4	-	7	1023	c.896C>T	c.(895-897)aCc>aTc	p.T299I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	299						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCACACCACGGTGACTGAGTA	0.567000													10	74					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112630477	112630477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:112630477G>A	ENST00000550722.1	-	59	9136	c.8741C>T	c.(8740-8742)gCc>gTc	p.A2914V	HECTD4_ENST00000377560.5_Missense_Mutation_p.A2888V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A2638V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTAACAGGCGGCCTCGATGAG	0.632000													7	17					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424805	69424805	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69424805G>A	ENST00000333026.3	+	7	963	c.863G>A	c.(862-864)gGg>gAg	p.G288E		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	288					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTCATAGTTGGGGAACCCCTT	0.473000													8	31					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876729	27876729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27876729G>A	ENST00000374011.2	-	6	2866	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	AHDC1_ENST00000247087.5_Missense_Mutation_p.S633L|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	633							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCGGGGCGGTGAGCACCGTCC	0.662000													35	71					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52583479	52583479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:52583479G>A	ENST00000395961.3	-	9	1482	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.P470L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	439						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGAGGTTCTTGGTTTGCTTTC	0.468000													80	140					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26718756	26718756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:26718756C>T	ENST00000396005.3	-	8	1304	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G332E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	332					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCCTGGCAGTCCTGGCATTGT	0.383000													29	50					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97174427	97174427	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97174427G>A	ENST00000371247.2	-	9	823	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P212S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P203S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P212S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P212S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P203S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.P180S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P212S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	212					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGATGAGGGGGAATGAAATCA	0.632000													20	39					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648906	75648906	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75648906G>A	ENST00000361470.2	+	1	861	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	195	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCTGATGAGGGACCAAGCAC	0.697000													6	23					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260017	16260017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16260017C>T	ENST00000375759.3	+	11	7486	c.7282C>T	c.(7282-7284)Ccc>Tcc	p.P2428S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2428	Interaction with MSX2 (By similarity).|Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCTGTGCCCCCAGACCT	0.547000													10	6					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42409915	42409915	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42409915C>T	ENST00000599846.1	+	26	2633	c.2508C>T	c.(2506-2508)acC>acT	p.T836T	ARHGEF1_ENST00000354532.3_Silent_p.T780T|ARHGEF1_ENST00000347545.4_Silent_p.T747T|ARHGEF1_ENST00000378152.4_Silent_p.T762T|ARHGEF1_ENST00000337665.4_Silent_p.T795T			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	780					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCAGCACCCGAGAACCCC	0.672000													16	40					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60755897	60755897	+	Silent	SNP	G	G	A	rs142797663		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:60755897G>A	ENST00000303375.5	+	13	2487	c.2085G>A	c.(2083-2085)aaG>aaA	p.K695K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	695	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGGACAAGAAGAGCTGGGTCC	0.657000													12	21					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785837	53785837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53785837C>T	ENST00000288139.3	+	29	3756	c.3638C>T	c.(3637-3639)cCc>cTc	p.P1213L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1193L|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P100L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1193L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1193					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)	CCCAAAAACCCCTACCAGTAC	0.498000													57	112					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925544	6925544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6925544C>T	ENST00000409757.4	+	2	552	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TBC1D14_ENST00000448507.1_Missense_Mutation_p.P143L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	143						intracellular	Rab GTPase activator activity	p.P128Q(1)|p.P143Q(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTCTATAGCCCGACCTCCAAA	0.602000													18	100					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783947	74783947	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74783947G>A	ENST00000233668.5	+	5	1821	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Silent_p.K245K|DOK1_ENST00000340004.6_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	384	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGAGCCCAAGGATGCATGGT	0.607000													42	72					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201041907	201041907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:201041907G>A	ENST00000362061.3	-	16	2429	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P735S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	735					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGGGGTAGGGATCCTTCACC	0.502000													26	76					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224200	27224200	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27224200G>A	ENST00000361720.5	-	2	491	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	156						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTTGAAGGGAAAGGAGC	0.517000													5	15					0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705289	62705289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62705289C>T	ENST00000395042.1	-	6	837	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RGS19_ENST00000332298.5_Missense_Mutation_p.D191N	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	191	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGGTAGGAGTCCCGGTGCATG	0.662000													34	66					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650549	90650549	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:90650549C>G	ENST00000282146.4	+	2	870	c.429C>G	c.(427-429)aaC>aaG	p.N143K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGTTCTTCAACCTCTTCCTGG	0.562000													41	64					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179051424	179051424	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179051424C>T	ENST00000326361.3	+	7	1117	c.672C>T	c.(670-672)atC>atT	p.I224I	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Silent_p.I224I|ZNF639_ENST00000496856.1_Silent_p.I224I	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	224					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGCATATGATCCTGAAGCATA	0.378000													19	42					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063239	194063239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:194063239C>T	ENST00000323830.3	-	2	282	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CPN2_ENST00000429275.1_Missense_Mutation_p.E65K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	65					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTCTGGTTTCCAATGTGGTG	0.547000													47	58					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975579	152975579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152975579C>T	ENST00000331860.3	+	3	233	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SPRR3_ENST00000542696.1_Missense_Mutation_p.P28L|SPRR3_ENST00000295367.4_Missense_Mutation_p.P28L	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	28					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCAGCCTCCACCTCAGGAA	0.512000													19	28					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558360	53558360	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53558360G>A	ENST00000371494.4	-	7	1024	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	299						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CGCACACCACGGTGACTGAGT	0.572000													10	73					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140394570	140394570	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140394570C>T	ENST00000072869.4	+	8	2026	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	616	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGCGAGGCCCTTCCTCCTCA	0.622000													39	41					0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118765006	118765006	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118765006C>T	ENST00000292174.4	+	2	929	c.753C>T	c.(751-753)cgC>cgT	p.R251R	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	251					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCAGCGGCGCCCTCAGCGGC	0.627000													18	26					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987975	61987975	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61987975G>A	ENST00000392824.4	-	2	381	c.320C>T	c.(319-321)cCc>cTc	p.P107L	CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TACTCTTCTGGGAACCTGGCT	0.522000													30	44					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54818415	54818415	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54818415C>T	ENST00000218436.6	-	3	341	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	104	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CATAGATTTTCTTTGCCTGGT	0.443000													33	77					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10625981	10625981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:10625981C>T	ENST00000547195.1	-	12	1941	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	MRVI1_ENST00000531107.1_Missense_Mutation_p.E564K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E563K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E481K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.E257K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E257K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E572K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E257K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E481K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E257K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E366K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E545K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	545					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTTCCAGTTCTTTCTCAGTG	0.483000													13	30					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39075702	39075702	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39075702C>T	ENST00000355481.4	+	101	14882	c.14751C>T	c.(14749-14751)ttC>ttT	p.F4917F	RYR1_ENST00000360985.3_Silent_p.F4917F|RYR1_ENST00000359596.3_Silent_p.F4922F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4922					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCTTCTTCTTCTTCGTCA	0.612000													17	23					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997364	173997364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:173997364C>T	ENST00000457714.1	+	6	2002	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	NLGN1_ENST00000545397.1_Missense_Mutation_p.P525S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P565S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P525S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	542					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGAGTTATTTCCTTGCAATTT	0.443000													14	44					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10105521	10105521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:10105521C>T	ENST00000287647.3	+	21	1966	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	FANCD2_ENST00000383806.1_Missense_Mutation_p.P625S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P625S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P625S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	625					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGAGCAGTCTCCTCAGGCCTC	0.453000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	45					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573626	52573626	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573626G>A	ENST00000395489.2	-	12	1713	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	A1CF_ENST00000282641.2_Silent_p.L446L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.L438L|A1CF_ENST00000373993.1_Silent_p.L446L|A1CF_ENST00000373995.3_Silent_p.L446L|A1CF_ENST00000395495.1_Silent_p.L391L|A1CF_ENST00000373997.3_Silent_p.L438L|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	446					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGGGGAGCGAGTTTAATTC	0.388000													32	53					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784814	140784814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140784814G>C	ENST00000573521.1	+	1	2295	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAAGGAAGAGTCACCTGA	0.522000													40	60					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55144428	55144428	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55144428G>A	ENST00000414150.2	+	11	2228	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	MROH7_ENST00000339553.5_Silent_p.K650K|MROH7_ENST00000395690.2_Silent_p.K650K|MROH7_ENST00000454855.2_Silent_p.K168K|MROH7_ENST00000545244.1_Silent_p.K218K|MROH7_ENST00000409996.1_Silent_p.K218K|MROH7_ENST00000421030.2_Silent_p.K650K					maestro heat-like repeat family member 7																		CCAGAGATAAGGAAGAGACCA	0.483000													26	27					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128147687	128147687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:128147687C>T	ENST00000284694.7	-	6	1939	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	C10orf90_ENST00000356858.3_Missense_Mutation_p.E560K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E704K|C10orf90_ENST00000480379.1_Missense_Mutation_p.E11K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E510K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	607										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCAGGTCCTCCTTCCGCTGG	0.552000													32	55					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176636700	176636700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176636700C>T	ENST00000439151.2	+	5	1345	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	NSD1_ENST00000347982.4_Missense_Mutation_p.P165S|NSD1_ENST00000361032.4_Missense_Mutation_p.P331S|NSD1_ENST00000354179.4_Missense_Mutation_p.P165S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	434					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)		GTATGATGTTCCCAAGGGGTC	0.378000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	37					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72984052	72984052	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72984052G>A	ENST00000521978.1	+	23	3399	c.3398_splice	c.e23-1	p.R1133_splice	RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000518273.1_Splice_Site_p.R1069_splice|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1133					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGCAAACAGGGGTAGATGGT	0.463000													5	23					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44385100	44385100	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44385100C>T	ENST00000350028.4	+	13	1342	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SAMM50_ENST00000396202.3_Silent_p.F185F	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	395					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAACACACTTCTTTCTCAACG	0.488000													45	60					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518366	123518366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123518366G>A	ENST00000422452.2	-	30	6478	c.6415C>T	c.(6415-6417)Cgc>Tgc	p.R2139C	TENM1_ENST00000371130.3_Missense_Mutation_p.R2132C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.R2134C(1)									ATTACCATGCGGCCCACATTA	0.398000													81	148					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979493	68979493	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:68979493C>T	ENST00000433211.1	-	6	889	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CTNNA3_ENST00000545309.1_Missense_Mutation_p.D239N|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D239N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	239					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACTGTGTCCTTGCTTGCT	0.453000													44	70					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048710	107048710	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:107048710G>A	ENST00000390627.2	-	0	530																											TCGGCTCTCAGGCTGTTCATT	0.542000													73	86					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38933001	38933001	+	Missense_Mutation	SNP	G	G	A	rs118192160		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38933001G>A	ENST00000355481.4	+	3	309	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RYR1_ENST00000360985.3_Missense_Mutation_p.D60N|RYR1_ENST00000359596.3_Missense_Mutation_p.D60N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	60					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTGCCCCCCGATCTGGCCAT	0.632000													15	40					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986356	51986356	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51986356G>A	ENST00000396477.4	+	4	780	c.759G>A	c.(757-759)atG>atA	p.M253I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.M314I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	314						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTGGAAATGGAGTGTATCT	0.502000													71	117					0	0	1	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7149394	7149394	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7149394G>A	ENST00000573600.1	-	7	961	c.540C>T	c.(538-540)tcC>tcT	p.S180S	CTDNEP1_ENST00000572043.1_Silent_p.S47S|CTDNEP1_ENST00000318988.6_Silent_p.S180S|CTDNEP1_ENST00000574322.1_Silent_p.S180S			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	180	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCACAATGCTGGAGAGGTCAC	0.567000													26	42					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197182021	197182021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:197182021C>T	ENST00000260983.2	-	10	2593	c.2411G>A	c.(2410-2412)aGg>aAg	p.R804K	HECW2_ENST00000409111.1_Missense_Mutation_p.R448K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	804	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTCCACCCTCTGGTACCG	0.532000													4	12					0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126268910	126268910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:126268910G>A	ENST00000318225.2	-	4	605	c.227C>T	c.(226-228)cCa>cTa	p.P76L		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	76										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGTAAAATCTGGAGCCCCGAG	0.612000													14	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604010	179604010	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179604010G>A	ENST00000589042.1	-	48	14174	c.13950C>T	c.(13948-13950)ttC>ttT	p.F4650F	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.F4333F|TTN_ENST00000359218.5_Silent_p.F4412F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.F4479F|TTN_ENST00000460472.2_Silent_p.F4287F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4333	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAACACTTGAACTTTTCAT	0.388000													10	23					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962216	165962216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:165962216G>A	ENST00000512596.1	+	3	1208	c.992G>A	c.(991-993)aGg>aAg	p.R331K	TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K|TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	331	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATGACCCAAGGAGATTTTAT	0.408000													27	42					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40976893	40976893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:40976893G>A	ENST00000313164.9	+	16	2475	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	706	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCAGCGCTGGGAGAAACTGCA	0.403000													5	5					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9900522	9900522	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:9900522C>T	ENST00000380913.3	+	6	3289	c.3199C>T	c.(3199-3201)Cca>Tca	p.P1067S	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1067	Poly-Pro.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGGCCACCGCCACCCAAGCG	0.697000													14	16					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27453224	27453224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:27453224G>A	ENST00000295736.5	-	12	1718	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	550						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGAAACACAGGAATCTTTCTC	0.418000													12	22					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412009	50412009	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50412009G>A	ENST00000596217.1	-	2	2943	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.L352L|NUP62_ENST00000597029.1_Silent_p.L352L|NUP62_ENST00000413454.1_Silent_p.L352L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Silent_p.L352L			P37198	NUP62_HUMAN	nucleoporin 62kDa	352					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCTGCTGGAGGAAGTGCC	0.632000													53	98					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604513	90604513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:90604513G>A	ENST00000369352.1	+	1	326	c.326G>A	c.(325-327)aGg>aAg	p.R109K		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	109					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GACAGGCAGAGGAAAAAGTCA	0.463000													17	18					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580116	161580116	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:161580116C>T	ENST00000356592.3	+	10	1630	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	GABRG2_ENST00000393933.4_Silent_p.I287I|GABRG2_ENST00000361925.4_Silent_p.I382I|GABRG2_ENST00000414552.2_Silent_p.I430I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	382					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATTGATATCCGCCCAAGAT	0.488000													14	28					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915831	26915831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:26915831C>T	ENST00000231021.4	-	3	602	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGATAAATTCCGATTCCGGT	0.398000													44	92					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582533	172582533	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:172582533T>G	ENST00000534253.2	+	9	880	c.712T>G	c.(712-714)Tct>Gct	p.S238A	DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S238A|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S230A|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S238A|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S230A|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S212A|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S238A			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	238					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AAGAGCTCTTTCTGAGCAGAT	0.348000													10	14					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623133	100623133	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:100623133C>T	ENST00000317233.4	-	6	1069	c.834G>A	c.(832-834)aaG>aaA	p.K278K	AFF3_ENST00000409579.1_Silent_p.K303K|AFF3_ENST00000356421.2_Silent_p.K303K|AFF3_ENST00000409236.1_Silent_p.K278K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGCTTGGCCTTGGCTCTGG	0.542000													29	32					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200862	52200862	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52200862C>T	ENST00000354534.5	+	27	5770	c.5592C>T	c.(5590-5592)atC>atT	p.I1864I	SCN8A_ENST00000545061.1_Silent_p.I1823I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1864					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGTTGGACATCCTGCGGCAGC	0.557000													79	99					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122551587	122551587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:122551587C>T	ENST00000264357.5	+	11	2127	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	GRIA3_ENST00000371256.5_Missense_Mutation_p.S612F|GRIA3_ENST00000542149.1_Missense_Mutation_p.S612F|GRIA3_ENST00000371251.1_Missense_Mutation_p.S612F|GRIA3_ENST00000541091.1_Missense_Mutation_p.S596F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	612					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTTTGGTTTTCCTTGGGTGCC	0.398000													82	91					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68207318	68207318	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68207318C>T	ENST00000294304.7	+	21	4528	c.4422C>T	c.(4420-4422)gaC>gaT	p.D1474D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1474					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTCTACGACCGGAACCACG	0.721000													5	5					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114294439	114294439	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:114294439C>T	ENST00000375370.5	+	12	1302	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	TFDP1_ENST00000538138.1_Silent_p.L265L|TFDP1_ENST00000544902.1_Silent_p.L335L	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	364					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGCAGTGACCTGACCAACGG	0.657000										TSP Lung(29;0.18)			38	53					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290748	57290748	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:57290748G>A	ENST00000543872.2	+	4	2828	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q	SMG8_ENST00000300917.5_Missense_Mutation_p.R855Q|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	855					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAAGACTCTCGAGGTCGGAGA	0.463000													52	83					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51924787	51924787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51924787C>T	ENST00000371117.3	-	15	1447	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W391*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	391					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCCTGAATCCAGAAAGTGTA	0.438000													28	28					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497462	46497462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46497462C>T	ENST00000231751.4	-	4	618	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	LTF_ENST00000417439.1_Missense_Mutation_p.R108Q|LTF_ENST00000426532.2_Missense_Mutation_p.R64Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	108	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATAGTGAGTTCGTGGCTCTGC	0.537000													12	12					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89628854	89628854	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:89628854G>A	ENST00000345097.4	-	7	1493	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	FOXN3_ENST00000557258.1_Silent_p.S437S|FOXN3_ENST00000261302.5_Silent_p.S459S|FOXN3_ENST00000555353.1_Silent_p.S437S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	459					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGCAGGAGGGACCCTGCCG	0.527000													34	50					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147023758	147023758	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147023758C>T	ENST00000265272.5	-	7	1554	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E363K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E321K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	363						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTATTTTTTCTCTCTGGATT	0.358000													24	30					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26589225	26589225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:26589225G>A	ENST00000381340.3	-	48	7114	c.6698C>T	c.(6697-6699)tCc>tTc	p.S2233F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2233					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGTTGAAGGAAATGCTCCC	0.423000													6	28					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672020	49672020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:49672020G>A	ENST00000561648.1	-	4	1096	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	ZNF423_ENST00000562520.1_Missense_Mutation_p.P288L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P288L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P288L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P348L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P231L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P231L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	348					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTGGAGTCGGGCTGCCGGTG	0.642000													17	11					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16383003	16383003	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16383003G>A	ENST00000375679.4	+	19	2127	c.2016_splice	c.e19+1	p.E672_splice	CLCNKB_ENST00000375667.3_Splice_Site_p.E502_splice	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGTGGAGGTACCAGGGT	0.627000											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	65					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93821974	93821974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93821974C>T	ENST00000315765.9	+	12	2142	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	712	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGCATGGGTCAGATCTATGA	0.502000													15	23					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35402036	35402036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:35402036C>T	ENST00000453357.2	+	1	127	c.71C>T	c.(70-72)tCc>tTc	p.S24F	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGACTTTTCCTCCCAAACT	0.403000													24	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062672	9062672	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9062672G>A	ENST00000397910.4	-	3	24977	c.24774C>T	c.(24772-24774)tcC>tcT	p.S8258S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCACAGAGGATTGACTAG	0.507000													16	13					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109972428	109972428	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109972428G>A	ENST00000342494.3	+	28	3643	c.3048G>A	c.(3046-3048)cgG>cgA	p.R1016R	UBE3B_ENST00000434735.2_Silent_p.R1016R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCGTCCTCCGGGGCTTCTTCA	0.637000													57	41					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876316	35876316	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35876316C>T	ENST00000303115.3	+	8	1237	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	370					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCTCACATGCCTGGCTGGGAA	0.547000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						17	37					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109399034	109399034	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:109399034G>T	ENST00000283195.6	+	28	9211	c.9085G>T	c.(9085-9087)Gta>Tta	p.V3029L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3029	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACTAAAGAAGTAGCTGATTG	0.383000													21	27					8.10497e-08	8.16116e-08	1	1	0
LGI4	163175	broad.mit.edu	37	19	35625002	35625002	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35625002G>A	ENST00000392225.3	-	2	696	c.177C>T	c.(175-177)ctC>ctT	p.L59L	LGI4_ENST00000591633.1_Silent_p.L59L|LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Silent_p.L59L			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	59						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGTCCTGACGAGTGAGCTGG	0.617000													4	4					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332936	31332936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31332936C>T	ENST00000544665.3	+	16	2064	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	ITGAM_ENST00000287497.8_Missense_Mutation_p.R664W	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACACGGGATCGGCTAAGAGA	0.527000													30	46					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58090940	58090940	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:58090940C>T	ENST00000357272.4	+	11	1909	c.1744C>T	c.(1744-1746)Ctg>Ttg	p.L582L	FLNB_ENST00000295956.4_Silent_p.L582L|FLNB_ENST00000419752.2_Silent_p.L413L|FLNB_ENST00000358537.3_Silent_p.L582L|FLNB_ENST00000348383.5_Silent_p.L582L|FLNB_ENST00000490882.1_Silent_p.L582L|FLNB_ENST00000429972.2_Silent_p.L582L|FLNB_ENST00000493452.1_Silent_p.L413L			O75369	FLNB_HUMAN	filamin B, beta	582					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTGGGGTCTCTGGGTAAGTG	0.587000													21	36					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876184	20876184	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:20876184G>A	ENST00000381552.1	+	9	1550	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	SLCO1C1_ENST00000266509.2_Silent_p.V394V|SLCO1C1_ENST00000540354.1_Silent_p.V345V|SLCO1C1_ENST00000545604.1_Silent_p.V394V|SLCO1C1_ENST00000545102.1_Silent_p.V276V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	394					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCAACTTTGTGATCGGTATGC	0.458000													27	40					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156281504	156281504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:156281504G>A	ENST00000311277.4	-	7	1129	c.866C>T	c.(865-867)tCa>tTa	p.S289L	AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Intron	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	289					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGCTGAAAATGAATTCTCTTT	0.363000													8	30					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176863228	176863228	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176863228C>T	ENST00000355472.5	+	12	1380	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	GRK6_ENST00000528793.1_Silent_p.V404V|GRK6_ENST00000355958.5_Silent_p.V404V|GRK6_ENST00000393576.3_Silent_p.V370V|GRK6_ENST00000507633.1_Silent_p.V404V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	404	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGAAGGAGGTCCCCGAGGAGT	0.632000													25	46					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125811183	125811183	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125811183C>A	ENST00000299308.3	+	1	22	c.14C>A	c.(13-15)gCa>gAa	p.A5E	TMEM132B_ENST00000418253.2_Intron	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	5						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGGTGCAGCATCCAGAATG	0.582000													8	15					0.000274275	0.000275016	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141055433	141055433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141055433C>T	ENST00000389484.3	-	84	13882	c.12911G>A	c.(12910-12912)gGa>gAa	p.G4304E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4304	EGF-like 12.				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)		AGGCTGGTTTCCAGCAGTCAC	0.498000										TSP Lung(27;0.18)			61	101					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154099876	154099876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154099876C>T	ENST00000368559.3	-	9	1167	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G366R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	366						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATCGGTTTCCAGGTTGGACA	0.358000													16	17					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16218717	16218717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16218717C>T	ENST00000399408.2	+	26	3867	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	ABCC1_ENST00000349029.5_Missense_Mutation_p.S1106F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1221F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1165F|ABCC1_ENST00000399410.3_Missense_Mutation_p.S1221F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1162F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1221	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCGGTGATCTCCAGGCACAGC	0.552000													22	40					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508063	14508063	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14508063C>T	ENST00000454876.2	+	7	1101	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	SLC6A6_ENST00000360861.3_Silent_p.L258L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	258					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CGCCATGCTCCTGGTGCTGCT	0.597000													43	73					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842474	227842474	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:227842474C>T	ENST00000343776.4	+	4	868	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H230Y			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	230					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)				TAAGAAAATTCATACTGGAGA	0.343000													24	67					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118828850	118828850	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118828850G>A	ENST00000264031.2	+	5	497	c.462G>A	c.(460-462)ggG>ggA	p.G154G	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	154					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCCGCACAGGGGGCATGGTGG	0.617000													31	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179606172	179606172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179606172C>T	ENST00000589042.1	-	48	12012	c.11788G>A	c.(11788-11790)Gaa>Aaa	p.E3930K	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3613K|TTN_ENST00000359218.5_Missense_Mutation_p.E3692K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3759K|TTN_ENST00000460472.2_Missense_Mutation_p.E3567K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3613							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGCTTTTCCAGAGATTTT	0.438000													63	93					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732060	100732060	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100732060C>T	ENST00000306085.6	+	3	1764	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	489					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTCCTCCCCAGACCCATCT	0.622000													81	97					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089073	31089073	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31089073C>T	ENST00000394979.2	+	1	1851	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	ZNF646_ENST00000300850.5_Silent_p.H476H			O15015	ZN646_HUMAN	zinc finger protein 646	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTACCGCCACCGGGGGAGCC	0.617000													17	17					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204237425	204237425	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204237425G>A	ENST00000272203.3	-	4	434	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R40C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	40										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACGGCTTTGCGGGCTGTGCGA	0.607000													7	18					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20425891	20425891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:20425891G>A	ENST00000337963.4	-	3	694	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZMYM5_ENST00000382907.4_Missense_Mutation_p.P144S|ZMYM5_ENST00000382905.4_Missense_Mutation_p.P144S	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	144						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTAGTTCCAGGAAGTCCCCAT	0.373000													32	61					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123092827	123092827	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123092827C>T	ENST00000466202.1	-	13	2922	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	IQUB_ENST00000324698.6_Silent_p.K782K			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	782										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTCTATAATCTTAGGTGTTG	0.403000													25	31					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33269644	33269644	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:33269644G>A	ENST00000314144.5	-	7	859	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CCT6B_ENST00000421975.3_Silent_p.F211F|CCT6B_ENST00000436961.3_Silent_p.F203F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	248					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTATAAAAGAAACCAGAGT	0.328000													17	28					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027518	2027518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:2027518G>A	ENST00000382722.5	-	1	484	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P41L|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	41						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGGCCACGGGCATTGGCTG	0.652000													15	4					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560513	44560513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:44560513C>T	ENST00000332567.4	-	1	1475	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	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)	375					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						TGCTCGAATTCCTCAGCCATA	0.517000													27	44					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23321901	23321901	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:23321901G>A	ENST00000298032.5	+	18	2442	c.2358G>A	c.(2356-2358)ccG>ccA	p.P786P	ARMC3_ENST00000409983.3_Silent_p.P779P|ARMC3_ENST00000376528.4_Silent_p.P523P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	786							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGTTATACCGATTGGACATG	0.353000													23	35					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85403797	85403797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:85403797G>A	ENST00000373131.1	+	1	336	c.173G>A	c.(172-174)gGc>gAc	p.G58D	DACH2_ENST00000373125.4_Missense_Mutation_p.G58D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	58	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCCGGAGGCGGCGGCAGGGGC	0.572000													35	33					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240976931	240976931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240976931C>T	ENST00000366565.1	-	13	1324	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K|RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000407727.1_Missense_Mutation_p.E315K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000331110.7_Missense_Mutation_p.E289K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	315	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCCTCAAGTTCCCAGAAAGTG	0.433000													25	9					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958431	90958431	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:90958431G>A	ENST00000265433.3	-	13	2161	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	NBN_ENST00000409330.1_Silent_p.S587S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATGGATTTCTGGAAGTAGAGT	0.323000								Homologous recombination					20	51					0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38908571	38908571	+	Silent	SNP	C	C	T	rs146126828	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:38908571C>T	ENST00000272252.5	+	3	747	c.495C>T	c.(493-495)gcC>gcT	p.A165A	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	165					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GAGCACAAGCCAGTCAGGCCA	0.507000													46	66					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347414	72347414	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72347414C>T	ENST00000299687.5	+	1	4439	c.4439C>T	c.(4438-4440)cCg>cTg	p.P1480L	ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480L|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGAGCTTCCGGAGGGAGGG	0.473000													10	13					0	0	1	0	0
CRYM	1428	broad.mit.edu	37	16	21278917	21278917	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21278917T>G	ENST00000219599.3	-	7	896	c.631A>C	c.(631-633)Att>Ctt	p.I211L	CRYM_ENST00000543948.1_Missense_Mutation_p.I211L|CRYM_ENST00000415987.2_Missense_Mutation_p.I169L|CRYM_ENST00000396023.2_Missense_Mutation_p.I211L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	211					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCAAACAAAATGGGCTCTGTT	0.552000													23	24					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653042	88653042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:88653042C>T	ENST00000301011.5	+	3	838	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P213L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	213						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GTGAAGGACCCCAGTGACAGG	0.552000													7	26					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339350	102339350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:102339350C>T	ENST00000395065.3	-	3	372	c.271G>A	c.(271-273)Gag>Aag	p.E91K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	91						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTCTCTCTCCATGTTAACG	0.473000													65	99					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180424258	180424258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:180424258G>A	ENST00000342868.6	+	3	627	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	148	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TATGTTGACGGAGGTATCCAG	0.502000													32	69					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38805034	38805034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38805034C>T	ENST00000449082.2	-	5	652	c.653G>A	c.(652-654)aGa>aAa	p.R218K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	218					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTAAGAACTCTGAATGTCCG	0.453000													34	66					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71468991	71468991	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71468991C>T	ENST00000322937.6	+	10	766	c.663C>T	c.(661-663)gcC>gcT	p.A221A	AMBN_ENST00000449493.2_Silent_p.A206A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	221					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCAAATAGCCCGTTTGATTT	0.318000													6	22					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299452	47299452	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:47299452G>A	ENST00000225941.1	+	7	1300		c.e7-1		ABI3_ENST00000419580.2_Splice_Site	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3						cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TTTCCCCCAAGACGAAGAGCT	0.587000										HNSCC(55;0.14)			45	98					0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597227	49597227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49597227C>T	ENST00000218068.6	+	4	345	c.266C>T	c.(265-267)cCt>cTt	p.P89L	PAGE4_ENST00000376141.1_Missense_Mutation_p.P89L	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	89												Ovarian(276;0.236)					CCACCTAATCCTAAGCATGCT	0.408000													38	40					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179537752	179537752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179537752A>G	ENST00000467460.1	-	9	1165	c.835T>C	c.(835-837)Ttt>Ctt	p.F279L	PEX5L_ENST00000485199.1_Missense_Mutation_p.F244L|PEX5L_ENST00000476138.1_Missense_Mutation_p.F236L|PEX5L_ENST00000468741.1_Missense_Mutation_p.F87L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F255L|PEX5L_ENST00000464614.1_Missense_Mutation_p.F171L|PEX5L_ENST00000392649.3_Missense_Mutation_p.F171L|PEX5L_ENST00000263962.8_Missense_Mutation_p.F277L|PEX5L_ENST00000472994.1_Missense_Mutation_p.F220L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	279					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTATCCCAAAACTCTGTATCT	0.438000													36	65					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101576605	101576605	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:101576605G>A	ENST00000536262.2	-	9	1699	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	381					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCAAGACAGAGACCTTTCT	0.383000													59	19					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552336	68552336	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68552336G>A	ENST00000265641.5	-	10	1264	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	CPT1A_ENST00000540367.1_Silent_p.T370T|CPT1A_ENST00000539743.1_Silent_p.T370T|CPT1A_ENST00000376618.2_Silent_p.T370T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	370					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGGCTCCGAGGTATTGTCCA	0.642000													25	43					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100334063	100334063	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100334063G>A	ENST00000372930.4	+	1	355	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	24						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTTTCATGGGGACTATCAAGC	0.557000													27	19					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028492	37028492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37028492C>T	ENST00000358047.3	+	1	2061	c.2009C>T	c.(2008-2010)cCc>cTc	p.P670L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	670										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCCGGAGCCCCCCGAGACT	0.642000													46	37					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625949	142625949	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142625949A>G	ENST00000265310.1	-	6	947	c.599T>C	c.(598-600)tTa>tCa	p.L200S	TRPV5_ENST00000442623.1_Missense_Mutation_p.L200S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	200					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)					GAGGATGTGTAATACTGTGTT	0.567000													57	52					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241726675	241726675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241726675G>A	ENST00000498729.2	-	5	668	c.422C>T	c.(421-423)tCc>tTc	p.S141F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S141F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	141	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACCTCCACGGAGTAGGACAT	0.627000													30	12					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148840782	148840782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:148840782C>T	ENST00000367467.3	+	10	1437	c.962C>T	c.(961-963)cCt>cTt	p.P321L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	321							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATGGCTCTCCTGAGAAACCT	0.582000													33	17					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652000													37	30					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97583064	97583064	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97583064G>A	ENST00000371207.3	+	2	186	c.123G>A	c.(121-123)gtG>gtA	p.V41V	ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371205.4_Silent_p.V29V|ENTPD1_ENST00000453258.2_Silent_p.V36V|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	29					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCATAGCTGTGATAGCTTTGC	0.403000													23	48					0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33058894	33058894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:33058894C>T	ENST00000373510.4	+	3	591	c.362C>T	c.(361-363)tCc>tTc	p.S121F	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S121F	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ATTAAATCTTCCTTAGACATT	0.378000													19	83					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104638927	104638927	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104638927G>A	ENST00000315264.7	+	6	1303	c.925G>A	c.(925-927)Ggg>Agg	p.G309R	KIF26A_ENST00000423312.2_Missense_Mutation_p.G448R			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	448					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGTCTGCTCGGGGACCGTGGC	0.637000													13	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442205	179442205	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179442205T>G	ENST00000589042.1	-	324	69081	c.68857A>C	c.(68857-68859)Aaa>Caa	p.K22953Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20385Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21312Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14013Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14080Q|TTN_ENST00000460472.2_Missense_Mutation_p.K13888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21312	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCCATCTTTTATTGTGGGA	0.363000													15	14					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368629	86368629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86368629C>T	ENST00000400286.2	-	2	2613	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	672						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGCAGAGGGTCTTTCAGTAGT	0.443000													73	130					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481617	140481617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140481617G>A	ENST00000231130.2	+	1	1384	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E462K(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.602000													50	111					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224262	248224262	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248224262C>T	ENST00000359959.3	+	1	279	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCTCCTTCACTGGGTGTG	0.433000													42	146					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266848	6266848	+	Nonsense_Mutation	SNP	G	G	A	rs121913065		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:6266848G>A	ENST00000264870.3	-	4	779	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGACTGGTTCGAAGTACGCCA	0.458000													4	69					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081122	54081122	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54081122G>A	ENST00000253144.9	+	7	2641	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	ZNF331_ENST00000449416.1_Silent_p.A436A|ZNF331_ENST00000512387.1_Silent_p.A436A|ZNF331_ENST00000511154.1_Silent_p.A436A|ZNF331_ENST00000511593.2_Silent_p.A436A|ZNF331_ENST00000513999.1_Silent_p.A436A|ZNF331_ENST00000411977.2_Silent_p.A436A	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACAGTGGGGCGAAATCCTACG	0.488000			T	?	follicular thyroid adenoma								17	20					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103369699	103369699	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:103369699C>T	ENST00000560371.1	+	10	1285	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TRAF3_ENST00000539721.1_Silent_p.S273S|TRAF3_ENST00000392745.2_Silent_p.S356S|TRAF3_ENST00000347662.4_Silent_p.S331S|TRAF3_ENST00000351691.5_Silent_p.S331S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	356					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GCGTGGAGTCCCTCCAGAACC	0.632000													28	55					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77416932	77416932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77416932C>T	ENST00000451710.3	-	16	2128	c.1891G>A	c.(1891-1893)Gga>Aga	p.G631R	TRPM6_ENST00000361255.3_Missense_Mutation_p.G626R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626R|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631R|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	631					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						GCCTCCTCTCCATGCTGCCAG	0.512000													34	12					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463000													21	43					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7232112	7232112	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7232112C>T	ENST00000379938.2	+	10	4317	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S	RREB1_ENST00000334984.6_Silent_p.S1260S|RREB1_ENST00000349384.6_Silent_p.S1260S|RREB1_ENST00000379933.3_Silent_p.S1260S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1260					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGCCAGCTCCCTACAGAGGC	0.607000													16	11					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104926	183104926	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:183104926C>T	ENST00000435564.1	-	3	509	c.309G>A	c.(307-309)cgG>cgA	p.R103R	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Silent_p.R103R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000346717.4_Silent_p.R69R|PDE1A_ENST00000358139.2_Silent_p.R103R|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000331935.6_Silent_p.R103R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCCCCATTTTCCGTGTAAAGG	0.423000													42	81					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938046	152938046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152938046C>T	ENST00000393831.2	-	3	609	c.175G>A	c.(175-177)Gag>Aag	p.E59K	PNCK_ENST00000447676.2_Missense_Mutation_p.E142K|PNCK_ENST00000370150.1_Missense_Mutation_p.E59K|PNCK_ENST00000340888.3_Missense_Mutation_p.E59K|PNCK_ENST00000370145.4_Missense_Mutation_p.E76K|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.E59K	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	59	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTCGTTCTCCACCAGGGCC	0.682000													57	70					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283284	152283284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152283284G>A	ENST00000368799.1	-	3	4113	c.4078C>T	c.(4078-4080)Cgc>Tgc	p.R1360C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1360	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1360S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCATGT	0.542000									Ichthyosis				91	321					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099089	91099089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91099089G>A	ENST00000371818.4	+	2	857	c.677G>A	c.(676-678)gGa>gAa	p.G226E	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226E|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	226					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GAAGCTGAAGGAGAGCAGTTT	0.443000													28	27					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060384	35060384	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:35060384C>T	ENST00000373913.3	+	3	744	c.264C>T	c.(262-264)ttC>ttT	p.F88F	DLGAP4_ENST00000401952.2_Silent_p.F88F|DLGAP4_ENST00000339266.5_Silent_p.F88F|DLGAP4_ENST00000373907.2_Silent_p.F88F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	88					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAGCCCCTTCCCCAGCCATG	0.627000													34	68					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605992	1605992	+	Missense_Mutation	SNP	G	G	A	rs60899198		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1605992G>A	ENST00000382171.2	-	1	521	c.488C>T	c.(487-489)tCc>tTc	p.S163F	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCCCCCTTGGAGCACCCACA	0.652000													46	106					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234229349	234229349	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234229349G>A	ENST00000409110.1	+	5	485	c.255G>A	c.(253-255)agG>agA	p.R85R	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	85					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTTCCGCAGGGACCTGTACT	0.587000													3	6					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907497	11907497	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11907497C>T	ENST00000376480.3	-	2	222		c.e2-1		NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Splice_Site|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A						cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCAAATTCTTTAGAAAAG	0.498000													20	31					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549887	50549887	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50549887C>T	ENST00000595661.1	+	6	2682	c.2187C>T	c.(2185-2187)ccC>ccT	p.P729P	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.P717P|ZNF473_ENST00000270617.3_Silent_p.P729P|ZNF473_ENST00000391821.2_Silent_p.P729P|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	729					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAGAAGCCCTATGTATGTG	0.493000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	53					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533061	166533061	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166533061C>T	ENST00000314499.7	+	6	1024	c.648C>T	c.(646-648)tgC>tgT	p.C216C	CSRNP3_ENST00000409420.1_Silent_p.C248C|CSRNP3_ENST00000342316.4_Silent_p.C216C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	216	Cys-rich.				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						GCTGTGACTGCCGAGTGTTCT	0.547000													30	57					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532215	22532215	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:22532215G>A	ENST00000404369.4	-	4	1146	c.731C>T	c.(730-732)tCt>tTt	p.S244F	STEAP1B_ENST00000406890.2_Missense_Mutation_p.S225F	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	225						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CCATGTCAAAGAGTCACTCAC	0.358000													22	23					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125435018	125435018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125435018G>A	ENST00000308736.2	-	23	3160	c.3062C>T	c.(3061-3063)cCa>cTa	p.P1021L	DHX37_ENST00000544745.1_Missense_Mutation_p.P808L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1021							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGTAGGGGCTGGTTCCTCCAG	0.667000													10	43					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140553	3140553	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3140553T>G	ENST00000252463.2	-	5	804	c.717A>C	c.(715-717)gcA>gcC	p.A239A	ZSCAN10_ENST00000538082.2_Silent_p.A157A|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	239					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGACTATCTGCCTGGGACT	0.622000													40	49					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21243032	21243032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21243032G>A	ENST00000540229.1	+	16	2304	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E639K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E747K|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.E686K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E686K																							TTCTGCTGAAGAACAGTAAAG	0.323000													5	8					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150642493	150642493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150642493G>A	ENST00000392968.2	-	13	4272	c.3152C>T	c.(3151-3153)tCc>tTc	p.S1051F	KCNH2_ENST00000330883.4_Missense_Mutation_p.S807F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S1147F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1147					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGGGCTGGGAGGTGAGGGC	0.706000													4	3					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224941	77224941	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77224941C>T	ENST00000458128.1	-	1	194	c.195G>A	c.(193-195)cgG>cgA	p.R65R	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	65					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						TCCAGAGGGTCCGGATCACTC	0.607000													83	152					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77416931	77416931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77416931C>T	ENST00000451710.3	-	16	2129	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	TRPM6_ENST00000361255.3_Missense_Mutation_p.G626E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631E|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	631					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						GGCCTCCTCTCCATGCTGCCA	0.517000													34	13					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054673	106054673	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106054673C>T	ENST00000390539.2	-	0	59																											CGACCACGTTCCCATCTTGGG	0.632000													34	50					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832347	44832347	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44832347C>T	ENST00000354340.4	-	4	2014	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	ZNF112_ENST00000337401.4_Missense_Mutation_p.G661R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G678R	NM_013380.3	NP_037512.3			zinc finger protein 112																		GGTTTTTCTCCTGTGTGAACC	0.453000													40	82					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933207	100933207	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:100933207G>A	ENST00000325455.5	-	4	3636	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.S134L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	728	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTTGACTACTGAAAGAAGTTG	0.343000													41	67					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73067622	73067622	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:73067622C>T	ENST00000429829.1	-	0	4966					NR_001564.2																						TTTCCAGCATCCCTTTCTATA	0.368000													19	34					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055218	49055218	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49055218G>A	ENST00000440857.1	-	4	747	c.45C>T	c.(43-45)gcC>gcT	p.A15A	DALRD3_ENST00000395462.4_Silent_p.A15A|DALRD3_ENST00000341949.4_Silent_p.A182A|DALRD3_ENST00000441576.2_Silent_p.A182A|DALRD3_ENST00000313778.5_Silent_p.A15A|DALRD3_ENST00000496568.1_5'UTR			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	182					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCTCTCCGAGGCAGCGGGCC	0.642000													12	24					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125373	34125373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:34125373G>A	ENST00000297161.2	+	14	1788	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	BMPER_ENST00000426693.1_Missense_Mutation_p.E472K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	472	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTAGGTTTGGAAATATCTTG	0.428000													18	16					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611072	139611072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139611072G>A	ENST00000303045.6	-	61	4701	c.4255C>T	c.(4255-4257)Cca>Tca	p.P1419S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1399S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1419	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGTGGCCTGGGATTCCAGGG	0.592000										HNSCC(7;0.00092)			27	47					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224201	27224201	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27224201G>A	ENST00000361720.5	-	2	490	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	156						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTTGAAGGGAAAGGAGCC	0.517000													5	15					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37367893	37367893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37367893G>A	ENST00000529555.1	+	2	949	c.161G>A	c.(160-162)aGa>aAa	p.R54K	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R54K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R54K			Q14585	ZN345_HUMAN	zinc finger protein 345	54					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	p.R54I(1)		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)			CAGCATCAGAGAATTCATACT	0.393000													40	59					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296495	145296495	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145296495C>T	ENST00000342960.5	+	3	452	c.417C>T	c.(415-417)tcC>tcT	p.S139S	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	139										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGGACAAGTCCCAGGGGCAGG	0.592000													67	136					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089074	31089074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31089074C>T	ENST00000394979.2	+	1	1852	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R477W			O15015	ZN646_HUMAN	zinc finger protein 646	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R477W(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTACCGCCACCGGGGGAGCCT	0.617000													17	18					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464926	73464926	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:73464926G>A	ENST00000556143.1	-	3	1301	c.581C>T	c.(580-582)tCt>tTt	p.S194F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S194F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S194F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	194						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GAGAGTATGAGACTTTCCATC	0.438000													24	67					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128602775	128602775	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:128602775G>A	ENST00000371122.4	-	21	2802	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	SMARCA1_ENST00000371123.1_Silent_p.S879S|SMARCA1_ENST00000371121.3_Silent_p.S879S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	891	SANT 1.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CCTCCTCAGGGGATTTGCCCT	0.333000													59	52					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48549500	48549500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48549500G>A	ENST00000376701.4	+	12	1531	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	486	Asp/Glu-rich (acidic).				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	p.E486K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCTCCAGACGAAGGGGAGGA	0.582000			"""Mis, N, F, S"""			lymphoma							20	39					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456348	48456348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:48456348G>A	ENST00000358536.4	-	21	4338	c.4069C>T	c.(4069-4071)Ctt>Ttt	p.L1357F	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1357F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1174F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1174F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1357	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTGTCAAGGATAAATTCC	0.602000													36	74					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21565463	21565463	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:21565463G>A	ENST00000382592.4	-	3	828	c.423C>T	c.(421-423)taC>taT	p.Y141Y	LATS2_ENST00000542899.1_Silent_p.Y141Y|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	141					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCGGGTCCAGGTAGCCCATCT	0.582000													21	44					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160807911	160807911	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:160807911G>A	ENST00000283243.7	-	24	3686	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	PLA2R1_ENST00000392771.1_Silent_p.F1160F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1160	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAACAGTGAGGAAGGACTGGT	0.433000													34	63					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517377	140517377	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140517377C>T	ENST00000231134.5	+	1	2578	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTGCTGCCTTCCGGAATA	0.468000													39	81					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166728	134166728	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:134166728T>C	ENST00000257013.7	+	1	396	c.315T>C	c.(313-315)ttT>ttC	p.F105F	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	105										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					AGCGAGTCTTTGGATGGGAGG	0.652000													25	37					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113812430	113812430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113812430C>T	ENST00000297405.5	-	13	2177	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	645	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAACACTTTCGTCCGTTTGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	50					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713045	70713045	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70713045G>A	ENST00000530196.1	-	0	1473					NR_003951.1																						AAAGCACAGGGAGCCCCAGGC	0.488000													20	30					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183072553	183072553	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183072553G>C	ENST00000258341.4	+	2	766	c.509G>C	c.(508-510)gGg>gCg	p.G170A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	170	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGAAGACGGGCCCTGGATT	0.562000													38	54					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931733	23931733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23931733C>T	ENST00000331837.4	-	1	717	c.632G>A	c.(631-633)tGg>tAg	p.W211*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	211	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CAGCACGTTCCAGACGGCGCT	0.622000									Prader-Willi syndrome				15	18					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412180	72412180	+	Silent	SNP	C	C	T	rs112375238		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:72412180C>T	ENST00000340595.3	+	16	2620	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	SLC4A4_ENST00000425175.1_Silent_p.I852I|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Silent_p.I852I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	852						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGCTCACATCGACAGTTTGA	0.478000													9	39					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123092828	123092828	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123092828T>A	ENST00000466202.1	-	13	2921	c.2345A>T	c.(2344-2346)aAg>aTg	p.K782M	IQUB_ENST00000324698.6_Missense_Mutation_p.K782M			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	782										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTATAATCTTAGGTGTTGT	0.398000													25	29					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152129	123152129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123152129G>A	ENST00000466202.1	-	2	842	c.266C>T	c.(265-267)tCa>tTa	p.S89L	IQUB_ENST00000324698.6_Missense_Mutation_p.S89L|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.S89L			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	89										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CGGAGTATATGAAACTTGTCT	0.388000													41	100					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144887383	144887383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144887383G>A	ENST00000356994.2	-	19	2575	c.2569C>T	c.(2569-2571)Ctc>Ttc	p.L857F	SCRIB_ENST00000320476.3_Missense_Mutation_p.L857F|SCRIB_ENST00000377533.3_Missense_Mutation_p.L776F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	857	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTGACGGAGGGGCCCGGGG	0.721000													5	5					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062454	76062454	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76062454G>A	ENST00000260045.3	-	5	1845	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	580					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCACTGTTGGGACACTTAGGG	0.423000													24	47					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204091058	204091058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204091058C>T	ENST00000367204.1	+	8	915	c.806C>T	c.(805-807)cCc>cTc	p.P269L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	269	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCACAGCCCCCCTGCCCCA	0.622000													12	14					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38212608	38212608	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38212608C>T	ENST00000323205.6	+	9	1284	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	GCAT_ENST00000248924.6_Silent_p.V381V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	381					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACCCCGTGGTCCCCAAGGGCA	0.612000													27	54					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13971342	13971342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:13971342G>A	ENST00000343495.5	-	8	1271	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ETV1_ENST00000405358.4_Missense_Mutation_p.S210F|ETV1_ENST00000242066.5_Missense_Mutation_p.S178F|ETV1_ENST00000405192.2_Missense_Mutation_p.S196F|ETV1_ENST00000420159.2_Missense_Mutation_p.S138F|ETV1_ENST00000403685.1_Missense_Mutation_p.S178F|ETV1_ENST00000430479.1_Missense_Mutation_p.S196F|ETV1_ENST00000405218.2_Missense_Mutation_p.S196F|ETV1_ENST00000399357.3_Missense_Mutation_p.S93F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.S156F			P50549	ETV1_HUMAN	ets variant 1	196					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGAGGAAAGGAGTTACAGGG	0.483000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								21	19					0	0	1	0	0
FAXDC2	10826	broad.mit.edu	37	5	154214494	154214494	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:154214494C>T	ENST00000326080.5	-	3	472	c.48_splice	c.e3-1	p.E17_splice	FAXDC2_ENST00000520968.1_Splice_Site_p.E17_splice|FAXDC2_ENST00000517938.1_5'UTR|FAXDC2_ENST00000518651.1_5'UTR|FAXDC2_ENST00000523997.1_5'UTR	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		ATGTGTCCCTCCTGGAGGAGG	0.572000													3	4					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28218604	28218604	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28218604G>A	ENST00000344423.5	-	2	169	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ZNF395_ENST00000523202.1_Missense_Mutation_p.S13F|ZNF395_ENST00000523095.1_Missense_Mutation_p.S13F	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	13					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCCCAGGAGGGACCGCTTTCC	0.692000													22	41					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002339	20002339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002339C>T	ENST00000589717.1	+	4	375	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	95					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTCTTTCCAAATAGGGAT	0.368000													10	24					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047504	11047504	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:11047504G>A	ENST00000470054.1	-	0	750									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGTTGGTTGGTACAGATTTC	0.343000													19	235					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651842	20651842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20651842C>T	ENST00000307493.4	-	7	1124	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E353K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	353					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCCACTCCTCCTGATCCTTG	0.562000													31	43					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83402052	83402052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83402052G>A	ENST00000262752.2	-	5	362	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R119W	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	119	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCTTTGTCCGAACTCTGTCT	0.289000													33	47					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274590	5274590	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5274590T>A	ENST00000380259.2	-	8	1601	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	HBG2_ENST00000336906.4_Nonsense_Mutation_p.K121*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.K111*					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATTCTTTGCCGAAATGG	0.522000													26	43					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962293	165962293	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:165962293G>A	ENST00000512596.1	+	3	1285	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	TRIM60_ENST00000508504.1_Missense_Mutation_p.G357R|TRIM60_ENST00000341062.5_Missense_Mutation_p.G357R	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	357	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGTAGAAGTGGGAAACAAACC	0.473000													33	40					0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50230823	50230823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50230823G>A	ENST00000232461.3	+	3	389	c.275G>A	c.(274-276)gGa>gAa	p.G92E	GNAT1_ENST00000433068.1_Missense_Mutation_p.G92E	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	92					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCCAGTACGGAGACTCTGCA	0.647000													26	30					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746694	77746694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:77746694C>T	ENST00000409088.3	-	3	715	c.301G>A	c.(301-303)Gat>Aat	p.D101N	LRRTM4_ENST00000409282.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D101N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D101N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	101						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCATCTTCATCCACTGAGCTA	0.373000													17	45					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77812760	77812760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812760G>A	ENST00000216468.7	-	3	314	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	87					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCCTCCAAAGGACCAGTTGCT	0.512000													21	51					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747912	94747912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:94747912C>T	ENST00000399300.2	-	3	940	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.E243K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	243							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)			ACGTCACCCTCCTTAACTGCA	0.378000													51	81					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43576771	43576771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:43576771G>A	ENST00000216129.6	-	3	586	c.523C>T	c.(523-525)Cag>Tag	p.Q175*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	175					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGGTAGGTCTGGTTGAACTTC	0.652000													58	93					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186084396	186084396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186084396C>T	ENST00000271588.4	+	75	11640	c.11411C>T	c.(11410-11412)cCa>cTa	p.P3804L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3804L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3804	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAGTTCCTCCATCTATTGCT	0.388000													24	85					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4923830	4923830	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4923830C>T	ENST00000320785.5	+	20	2151	c.1794C>T	c.(1792-1794)aaC>aaT	p.N598N	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	598					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCCGCTTCAACCACCCGGAGC	0.582000													20	41					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76245981	76245981	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:76245981C>T	ENST00000298832.9	+	24	2656	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.F368F|TTLL5_ENST00000554510.1_Silent_p.F326F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	817					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTAGTGTCTTCCTGGGGACTC	0.393000													25	46					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230838923	230838923	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:230838923G>A	ENST00000366667.4	-	5	1636	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	474					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CGCGGCCCAGGAAGTGCAGGG	0.607000													31	30					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021425	132021425	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:132021425G>A	ENST00000356920.5	+	15	2491	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	799	Actin-like.						ATP binding										TGGCTCCCGAGGAGCACCCCA	0.582000													61	109					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78390908	78390908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:78390908G>A	ENST00000238561.5	+	8	1066	c.967G>A	c.(967-969)Gga>Aga	p.G323R	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G255R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	330	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCCCGGCACGGGAAAGGCGGA	0.582000													33	47					0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38033500	38033500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:38033500G>A	ENST00000378533.3	-	3	368	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	SRPX_ENST00000432886.2_Missense_Mutation_p.R88C|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.R75C|SRPX_ENST00000544439.1_Missense_Mutation_p.R68C|SRPX_ENST00000538295.1_Missense_Mutation_p.R88C	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	88	Sushi 1.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCTGGCAGCGAATGTCGCAC	0.557000													21	42					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834372	107834372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107834372C>T	ENST00000328300.6	+	20	1494	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	COL4A5_ENST00000361603.2_Missense_Mutation_p.S417F	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	417	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGAATTTCCATTCCTGGA	0.557000									Alport syndrome with Diffuse Leiomyomatosis				66	61					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048711	107048711	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:107048711G>A	ENST00000390627.2	-	0	529																											CGGCTCTCAGGCTGTTCATTT	0.537000													74	86					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067661	190067661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:190067661C>T	ENST00000367462.3	-	8	2019	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W494*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		596						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TAGTCCGCTCCCAGTCTGGAA	0.478000													79	69					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056552	120056552	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120056552G>A	ENST00000235547.6	+	4	551	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	HSD3B1_ENST00000369413.3_Missense_Mutation_p.E136K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E136K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	136					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTCCTACAAGGAAATCATCCA	0.537000													40	133					0	0	1	0	0
C12orf29	91298	broad.mit.edu	37	12	88440660	88440660	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:88440660G>A	ENST00000356891.3	+	6	899	c.696G>A	c.(694-696)ttG>ttA	p.L232L	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	232										large_intestine(3)|lung(1)|ovary(1)	5						TACCTTCATTGAAGCACAATG	0.383000													139	34					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876487	196876487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:196876487G>A	ENST00000367416.2	+	5	792	c.655G>A	c.(655-657)Gga>Aga	p.G219R	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TATTAGCAATGGAGATACCAC	0.403000													8	46					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153051682	153051682	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153051682G>A	ENST00000370092.3	-	12	1250	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000217901.5_Silent_p.S355S|IDH3G_ENST00000427365.2_Silent_p.S297S	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	355					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATTGTCCATGGATGCCAGGA	0.647000													27	47					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672075	55672075	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55672075C>T	ENST00000527223.2	-	9	1186	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	DNAAF3_ENST00000524407.2_Silent_p.A327A|DNAAF3_ENST00000391720.4_Silent_p.A374A|DNAAF3_ENST00000455045.1_Silent_p.A273A|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	327																	CGGTGGCTCTCGCGCGCCCCC	0.682000											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	70					0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113143419	113143419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:113143419C>T	ENST00000358039.4	-	4	807	c.503G>A	c.(502-504)aGg>aAg	p.R168K	ST7L_ENST00000544629.1_Missense_Mutation_p.R168K|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000369668.2_Missense_Mutation_p.R168K|ST7L_ENST00000369666.1_Missense_Mutation_p.R151K|ST7L_ENST00000343210.7_Missense_Mutation_p.R168K|ST7L_ENST00000360743.4_Missense_Mutation_p.R168K|ST7L_ENST00000538187.1_Missense_Mutation_p.R112K|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.R151K|ST7L_ENST00000490067.1_Missense_Mutation_p.R151K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	168					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATACCTCCTATATTCTGC	0.328000													5	11					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561153	33561153	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:33561153C>G	ENST00000504830.1	-	20	4439	c.4104G>C	c.(4102-4104)tgG>tgC	p.W1368C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1283C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1368	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCCACTTTCCAGCCAGCAC	0.527000										HNSCC(64;0.19)			44	92					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15342946	15342946	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:15342946G>A	ENST00000333590.4	-	5	1113	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PIGA_ENST00000428964.1_Silent_p.N28N|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.N109N	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	343					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAATAATAAGGTTTTCTGGAA	0.388000													42	56					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210650808	210650808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:210650808C>T	ENST00000439458.1	+	5	699	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R207C	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	207						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCTCACCTTCCGTCTGGCCAG	0.498000													37	22					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118897432	118897432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:118897432C>T	ENST00000277905.2	-	1	380	c.136G>A	c.(136-138)Gag>Aag	p.E46K	VAX1_ENST00000369206.5_Missense_Mutation_p.E46K	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	46						nucleus	sequence-specific DNA binding	p.E46K(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCCTGCGGCTCCTTGAGGAAG	0.647000													30	56					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78165220	78165220	+	Silent	SNP	C	C	T	rs147432650		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78165220C>T	ENST00000573882.1	+	10	1724	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	CARD14_ENST00000392434.2_Silent_p.V159V|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.V396V|CARD14_ENST00000570421.1_Silent_p.V396V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	396					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGACCAGGTCTGCGAGCTGC	0.667000													33	54					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1519991	1519991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1519991C>T	ENST00000571650.1	-	3	539	c.233G>A	c.(232-234)tGg>tAg	p.W78*	SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCAGCTGAGCCAGCCGTTCAT	0.597000													24	38					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158630511	158630511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:158630511G>A	ENST00000424310.2	-	2	474	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	RNF145_ENST00000274542.2_Nonsense_Mutation_p.Q67*|RNF145_ENST00000521606.2_Nonsense_Mutation_p.Q56*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Q69*|RNF145_ENST00000519865.1_Nonsense_Mutation_p.Q39*|RNF145_ENST00000520638.1_Nonsense_Mutation_p.Q53*	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	39						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTTCTTTGGATCTGCTGG	0.423000													43	71					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404104	20404104	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20404104C>T	ENST00000285600.4	+	1	338	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403000													36	75					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099897	50099897	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099897C>T	ENST00000418929.2	+	4	2317	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCCCCACCTCCCACGGCCCA	0.711000													15	15					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730568	27730568	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27730568C>T	ENST00000264717.2	+	14	1227	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	GCKR_ENST00000424318.2_Silent_p.S198S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	388	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCACCTTCTCCCAGGAGGACT	0.542000													20	42					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280494	280494	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:280494C>T	ENST00000534750.1	+	4	965	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	NLRP6_ENST00000312165.5_Silent_p.L254L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	254	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGACCTGATCCTGGACCAGTG	0.726000													8	10					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837928	29837928	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29837928C>T	ENST00000354373.2	+	2	980	c.771C>T	c.(769-771)tcC>tcT	p.S257S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	257	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AGAACGTTTCCTTTTTTGATG	0.512000													5	74					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77812778	77812778	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812778G>T	ENST00000216468.7	-	3	296	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	81					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCTTTCCGCAGATCTTCCGTG	0.512000													30	55					2.08457e-15	2.11946e-15	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12337250	12337250	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12337250A>G	ENST00000358136.3	+	19	3735	c.3605A>G	c.(3604-3606)aAa>aGa	p.K1202R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K1202R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1202					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTGGCACCAAAGTTAATGTC	0.403000													58	78					0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784468	46784468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46784468G>A	ENST00000442359.2	-	3	387	c.388C>T	c.(388-390)Cca>Tca	p.P130S	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	162	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGGACAACTGGGGGGAAGAAG	0.527000													16	31					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861462	26861462	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26861462C>T	ENST00000226247.2	+	6	1070	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	FOXN1_ENST00000579795.1_Silent_p.A347A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	347					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCCTGTGGGCCCTCAATCCGG	0.537000													22	39					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753920	207753920	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:207753920C>T	ENST00000367049.4	+	31	5178	c.5178C>T	c.(5176-5178)ctC>ctT	p.L1726L	CR1_ENST00000400960.2_Silent_p.L1276L|CR1_ENST00000367052.1_Silent_p.L1276L|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.L1276L|CR1_ENST00000367053.1_Silent_p.L1276L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1276	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTAATCTCCAGCTTGGGG	0.433000													127	47					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164409	15164409	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15164409C>T	ENST00000427043.3	+	3	452	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CASP14_ENST00000221740.1_Silent_p.F48F	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	48					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						AGCTGAGATTCGAAAGCACCA	0.557000													50	54					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106722	90106722	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90106722C>T	ENST00000405460.2	+	74	15741	c.15645C>T	c.(15643-15645)tcC>tcT	p.S5215S	GPR98_ENST00000425867.2_Silent_p.S876S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5215					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAATGTTTCCATTCATGGAA	0.458000													27	39					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433603	67433603	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67433603G>A	ENST00000349015.3	-	6	747	c.309C>T	c.(307-309)atC>atT	p.I103I	ALDH3B2_ENST00000530069.1_Silent_p.I103I	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	103					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CTGTGAAGAAGATGTAGTCCA	0.637000													37	62					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720207	95720207	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95720207C>T	ENST00000480546.1	-	0	1090					NR_002319.2																						TCGAGCCTCTCCCTGGATGGA	0.532000													22	20					0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5164203	5164203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:5164203C>T	ENST00000381641.3	-	2	417	c.352G>A	c.(352-354)Gat>Aat	p.D118N	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	118						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCCTTTTTATCCTTATACTCA	0.338000													81	18					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47913532	47913532	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47913532G>A	ENST00000289672.2	-	24	3911	c.3861C>T	c.(3859-3861)ccC>ccT	p.P1287P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1287	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGGTAGCGGGGCAGCACAG	0.512000													21	24					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125587579	125587579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125587579C>T	ENST00000316519.6	+	7	925	c.719C>T	c.(718-720)cCt>cTt	p.P240L	AACS_ENST00000261686.6_Missense_Mutation_p.P240L	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	240					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTGGTGATTCCTTATGTGTCC	0.468000													47	200					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963595	88963595	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88963595C>T	ENST00000333190.4	+	4	1908	c.1299C>T	c.(1297-1299)acC>acT	p.T433T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	433						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373000										HNSCC(36;0.09)			35	35					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667349	100667349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100667349G>A	ENST00000316594.5	+	2	451	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	125	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CTGTAGCAAGGAAGAGATTGT	0.502000													71	84					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190611141	190611141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:190611141C>T	ENST00000520309.1	+	23	4181	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Q1365*|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Q1294*	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1365						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACCTAAAATTCAACCAAAAGA	0.343000													46	100					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62248493	62248493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62248493G>A	ENST00000258991.3	-	7	2743	c.2659C>T	c.(2659-2661)Ctc>Ttc	p.L887F	TEX2_ENST00000584379.1_Missense_Mutation_p.L880F|TEX2_ENST00000583097.1_Missense_Mutation_p.L880F			Q8IWB9	TEX2_HUMAN	testis expressed 2	880					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGGCCTGGAGGATTTTTGGC	0.448000													17	17					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540328	103540328	+	Missense_Mutation	SNP	C	C	T	rs142753283		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103540328C>T	ENST00000358392.2	-	4	814	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.R166Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R166Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.R166Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	166	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATTGCTACCCGATGCCACCT	0.353000													23	25					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78778840	78778840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:78778840C>T	ENST00000286627.5	-	17	2898	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	KCNMA1_ENST00000404857.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G649E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G653E|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G649E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G649E	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	649					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAGATGGTTTCCAGGATTAAT	0.348000													6	31					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670072	158670072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158670072G>A	ENST00000359610.2	-	1	414	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCTGCATATGGCCAGGTAGTG	0.468000													15	54					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327032	52327032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52327032G>A	ENST00000339223.4	+	2	210	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_ENST00000595991.1_Missense_Mutation_p.E11K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	11					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493000													17	33					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72111619	72111619	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72111619C>A	ENST00000340726.3	-	18	2374	c.1735G>T	c.(1735-1737)Gac>Tac	p.D579Y	EYA1_ENST00000388740.3_Missense_Mutation_p.D546Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000419131.1_Missense_Mutation_p.D544Y|EYA1_ENST00000388743.2_Missense_Mutation_p.D578Y|EYA1_ENST00000303824.7_Missense_Mutation_p.D573Y|EYA1_ENST00000388741.2_Missense_Mutation_p.D545Y|EYA1_ENST00000388742.4_Missense_Mutation_p.D579Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	579					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCCATGAGGTCCGAGTGGCTG	0.597000													6	18					2.0095e-06	2.02221e-06	1	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065335	55065335	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55065335C>T	ENST00000526016.1	-	0	373					NR_038174.2																						CATCACTTACCCGGCGTTCCT	0.478000													14	21					0	0	1	0	0
YPEL5	51646	broad.mit.edu	37	2	30381531	30381531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:30381531C>T	ENST00000379520.3	+	5	692	c.188C>T	c.(187-189)aCt>aTt	p.T63I	YPEL5_ENST00000402708.1_Missense_Mutation_p.T63I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T63I|YPEL5_ENST00000379519.3_Missense_Mutation_p.T63I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T63I|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	63							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GTCATGCTCACTGGCCGCCAC	0.448000													40	42					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135589	19135589	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19135589A>T	ENST00000601879.1	-	3	1865	c.1568T>A	c.(1567-1569)tTt>tAt	p.F523Y	SUGP2_ENST00000337018.6_Missense_Mutation_p.F523Y|SUGP2_ENST00000600377.1_Missense_Mutation_p.F537Y|SUGP2_ENST00000456085.2_Missense_Mutation_p.F292Y|SUGP2_ENST00000452918.2_Missense_Mutation_p.F523Y			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	523					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTCTCGCCCAAACAAAGTGGA	0.542000													38	56					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826342	65826342	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:65826342C>T	ENST00000528302.1	+	9	1011	c.957C>T	c.(955-957)ccC>ccT	p.P319P	SF3B2_ENST00000322535.6_Silent_p.P336P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	336					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAAAAGCCCCAGCGGGTGC	0.572000													20	50					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992705	66992705	+	Missense_Mutation	SNP	G	G	A	rs143168011	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:66992705G>A	ENST00000276570.5	+	5	714	c.427G>A	c.(427-429)Gag>Aag	p.E143K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	143					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTGCCGGCCCGAGTCATCAGT	0.562000													23	18					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000423	56000423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56000423C>T	ENST00000313264.4	-	1	314	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G80E(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413000													20	29					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81930561	81930561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81930561C>T	ENST00000438331.1	-	5	648	c.166G>A	c.(166-168)Gga>Aga	p.G56R	ANXA11_ENST00000537102.1_Missense_Mutation_p.G23R|ANXA11_ENST00000360615.4_Missense_Mutation_p.G56R|ANXA11_ENST00000372231.3_Missense_Mutation_p.G56R|ANXA11_ENST00000265447.4_Missense_Mutation_p.G56R|ANXA11_ENST00000535999.1_Missense_Mutation_p.G56R|ANXA11_ENST00000422982.3_Missense_Mutation_p.G56R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	56					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTCACCATTCCCGAGAGATAG	0.637000													24	51					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716803	142716803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142716803C>T	ENST00000381779.4	-	2	2347	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G708R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G708R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	708						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACATGAACCCAGTTTCTGAC	0.408000													48	124					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99064192	99064192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99064192C>T	ENST00000376586.2	+	16	2066	c.1730C>T	c.(1729-1731)cCg>cTg	p.P577L	FARP1_ENST00000319562.6_Missense_Mutation_p.P577L|FARP1_ENST00000595437.1_Missense_Mutation_p.P577L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	577	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GACGCCATGCCGGAAGCACTG	0.443000													48	119					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145103915	145103915	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145103915G>A	ENST00000453618.1	+	0	410							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGTCTGGCCGGGACCTTCAA	0.418000													5	7					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060943	189060943	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:189060943C>T	ENST00000332517.3	+	1	371	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	77					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGCCAGCATCGCCAGGCAGC	0.627000													15	50					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10248557	10248557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10248557C>T	ENST00000418404.3	-	14	1709	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	MYH13_ENST00000252172.4_Missense_Mutation_p.G516R|MYH13_ENST00000570743.1_Missense_Mutation_p.G516R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	516	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTCCATTCCGAAGTCAATG	0.527000													40	84					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917660	186917660	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:186917660C>T	ENST00000312295.4	+	2	624	c.594C>T	c.(592-594)atC>atT	p.I198I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	198					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGAGGGCATCGTGCACTGGA	0.701000													18	19					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285517	48285517	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48285517T>G	ENST00000320048.1	+	1	105	c.105T>G	c.(103-105)gcT>gcG	p.A35A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTACACAGCTGTTGTGCTGG	0.458000													25	36					0	0	1	0	0
FAM150A	389658	broad.mit.edu	37	8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	rs145116532		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53452429C>T	ENST00000358543.4	-	3	537	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	96						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363000													19	32					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232381	71232381	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71232381C>T	ENST00000226460.4	+	3	171	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	25						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GTCAAAGAGGCCCCAGGGGAC	0.453000													31	33					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12989535	12989535	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12989535C>T	ENST00000222219.3	-	4	552	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	154					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGGTCTGCCCGTAGGTACAG	0.567000													7	11					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64398031	64398031	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64398031C>T	ENST00000265459.6	-	19	4061	c.3600G>A	c.(3598-3600)gtG>gtA	p.V1200V	NRXN2_ENST00000301894.2_Silent_p.V154V|NRXN2_ENST00000377551.1_Silent_p.V1200V|NRXN2_ENST00000409571.1_Silent_p.V1193V|NRXN2_ENST00000377559.3_Silent_p.V1160V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1200	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATCACCCCCACGGTGCCCT	0.592000													11	30					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633160	32633160	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:32633160G>A	ENST00000242310.4	-	1	2507	c.2418C>T	c.(2416-2418)ccC>ccT	p.P806P		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	806					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTCAAACAAGGGACACTGCT	0.413000													58	25					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40488920	40488920	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40488920C>T	ENST00000287598.6	+	9	1428	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	BUB1B_ENST00000412359.3_Silent_p.S425S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	411					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGGAATTCTCCTTTGAAGAAA	0.408000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				40	47					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613869	613869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:613869C>T	ENST00000409413.3	+	2	854	c.575C>T	c.(574-576)cCg>cTg	p.P192L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	192	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCTATCCCCCGCCTGCCCCA	0.706000													3	4					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955273	54955273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54955273G>A	ENST00000173898.7	+	12	2228	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.E309K|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.E237K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	706					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATTTTCATTTGAAATTGAGGC	0.517000													14	19					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092751	151092751	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151092751C>T	ENST00000370340.3	+	3	882	c.615C>T	c.(613-615)atC>atT	p.I205I	MAGEA4_ENST00000360243.2_Silent_p.I205I|MAGEA4_ENST00000276344.2_Silent_p.I205I|MAGEA4_ENST00000370335.1_Silent_p.I205I|MAGEA4_ENST00000393920.1_Silent_p.I205I|MAGEA4_ENST00000393921.1_Silent_p.I205I|MAGEA4_ENST00000370337.4_Silent_p.I205I			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	205	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGATAATCGTCCTGGGCA	0.562000													108	105					0	0	1	0	0
NICN1	84276	broad.mit.edu	37	3	49463814	49463814	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49463814G>A	ENST00000273598.3	-	2	266	c.180C>T	c.(178-180)atC>atT	p.I60I	NICN1_ENST00000436744.2_Silent_p.I60I|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	60						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACGGACACGGATGCTCAAAA	0.532000													18	34					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834652	82834652	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82834652G>A	ENST00000265077.3	+	8	6395	c.5830G>A	c.(5830-5832)Gtg>Atg	p.V1944M	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V957M|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1944	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATACTCAACAGTGTCTCATCC	0.443000													41	57					0	0	1	0	0
TMEM127	55654	broad.mit.edu	37	2	96919664	96919664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:96919664G>A	ENST00000258439.2	-	4	855	c.599C>T	c.(598-600)cCc>cTc	p.P200L	TMEM127_ENST00000432959.1_Missense_Mutation_p.P200L|TMEM127_ENST00000435268.1_Missense_Mutation_p.P116L	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	200					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TTCCTCTGTGGGGTAGTGGCG	0.607000													15	26					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633120	11633120	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11633120C>T	ENST00000423059.3	-	3	1283	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	344						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCTTCTCTTGCTGGCAAAAGC	0.463000										HNSCC(18;0.044)			24	69					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154248134	154248134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154248134C>T	ENST00000328703.7	+	7	1010	c.797C>T	c.(796-798)tCc>tTc	p.S266F	HAX1_ENST00000532105.1_Missense_Mutation_p.S138F|HAX1_ENST00000457918.2_Missense_Mutation_p.S218F|HAX1_ENST00000483970.2_Missense_Mutation_p.S274F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	266	Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGCCTTTTCCATCCTGGAC	0.498000									Kostmann syndrome				11	28					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163958	161163958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161163958G>A	ENST00000367996.4	-	5	1743	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	439	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCTTGCCAGGGAAAGTCACA	0.622000													34	45					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100622742	100622742	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:100622742G>A	ENST00000267294.4	-	1	1421	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	396	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTTGCAGATGAGCTCCTGCT	0.791000													3	6					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325496	37325496	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:37325496C>T	ENST00000262825.5	+	5	661	c.444C>T	c.(442-444)ttC>ttT	p.F148F	CSF2RB_ENST00000403662.3_Silent_p.F148F|CSF2RB_ENST00000406230.1_Silent_p.F148F|CSF2RB_ENST00000536485.1_Silent_p.F89F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	148	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGACCACTTCCTGCTGACCT	0.632000													47	104					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118510990	118510990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:118510990C>T	ENST00000311085.8	+	26	6796	c.6716C>T	c.(6715-6717)tCt>tTt	p.S2239F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2239F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2239										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTTCACTTTCTGCTTGTATT	0.303000													22	18					0	0	1	0	0
SLF2	55719	broad.mit.edu	37	10	102684486	102684486	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102684486C>T	ENST00000238961.3	+	5	1876	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	FAM178A_ENST00000370271.3_Silent_p.A576A|FAM178A_ENST00000370269.3_Silent_p.A576A	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	576																	CAGATAAAGCCCCTTCAGAAG	0.463000													19	45					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549384	58549384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58549384G>A	ENST00000282326.1	+	3	427	c.180G>A	c.(178-180)tgG>tgA	p.W60*	ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.W60*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.W60*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	60	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCAGCTCTGGACGCTGTGCC	0.706000													15	16					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76920140	76920140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76920140C>T	ENST00000373344.5	-	11	4151	c.3937G>A	c.(3937-3939)Gat>Aat	p.D1313N	ATRX_ENST00000395603.3_Missense_Mutation_p.D1275N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1313					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCACCCTCATCTCCTGGGTTT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						62	89					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429837	57429837	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:57429837G>A	ENST00000371100.4	+	1	2069	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R506Q|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G443R|GNAS_ENST00000371102.4_Missense_Mutation_p.R506Q	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTGCCACCCGGGCAGCCCAA	0.746000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	4					0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125617640	125617640	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125617640G>C	ENST00000305738.5	+	4	182	c.170G>C	c.(169-171)gGa>gCa	p.G57A	PATE1_ENST00000437148.2_Missense_Mutation_p.G45A	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	57						extracellular region				large_intestine(1)|lung(5)	6						CAGTTCCCAGGAGAAAAGTGC	0.473000													36	52					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211305	37211305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37211305C>T	ENST00000585696.1	+	3	2816	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.S529F|ZNF567_ENST00000360729.4_Missense_Mutation_p.S529F|ZNF567_ENST00000588311.1_Missense_Mutation_p.S529F|ZNF567_ENST00000536254.2_Missense_Mutation_p.S560F			Q8N184	ZN567_HUMAN	zinc finger protein 567	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCCAGAAATCCTATGAATGT	0.418000													41	57					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92007924	92007924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92007924G>A	ENST00000285419.3	-	7	1069	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	252						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTGTGTTCTGGATAACTGAC	0.398000													21	49					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36128163	36128163	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36128163C>T	ENST00000262633.4	+	9	1344	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	RBM42_ENST00000592202.1_Silent_p.I359I|RBM42_ENST00000588161.1_Silent_p.I383I|RBM42_ENST00000589871.1_Silent_p.I391I|RBM42_ENST00000360475.4_Silent_p.I384I|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000586618.1_Silent_p.I117I	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	413	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAGGTGATCCGTGACAAGC	0.587000													33	43					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820400	43820400	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43820400C>T	ENST00000382031.1	+	5	7474	c.7443C>T	c.(7441-7443)ctC>ctT	p.L2481L	MAP1A_ENST00000300231.5_Silent_p.L2243L|MAP1A_ENST00000399453.1_Silent_p.L2243L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2243						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCCCTCTCCTCTCCAATC	0.617000													55	96					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142481271	142481271	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142481271C>T	ENST00000430863.1	-	0	1970					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ATTGCCCAATCCTTTTGAAGT	0.577000													22	37					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546120	11546120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11546120G>A	ENST00000389362.4	-	3	927	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGAGAACTTCGG	0.612000													135	257					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642835	156642835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156642835G>A	ENST00000368223.3	-	4	1277	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	382	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGGTAGGGGTACGGGCCTG	0.602000													56	45					0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111543266	111543266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:111543266C>T	ENST00000368850.3	+	5	920	c.434C>T	c.(433-435)cCc>cTc	p.P145L	SLC16A10_ENST00000368851.5_Missense_Mutation_p.P459L			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	459					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGAGTCCCTCCCCTTATTGGA	0.458000													43	21					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	39000474	39000474	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:39000474A>C	ENST00000381938.3	-	2	251	c.144T>G	c.(142-144)taT>taG	p.Y48*	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	48			Y -> C (in dbSNP:rs35576563).			integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGGAGAGTGAATAGGTAAAAT	0.328000													16	25					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153205608	153205608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153205608C>T	ENST00000393700.3	-	9	1104	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	RENBP_ENST00000369997.3_Missense_Mutation_p.D328N|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	342					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGCACAGGGTCCCCACTGTCA	0.602000													48	46					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898760	6898760	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6898760G>A	ENST00000379829.2	+	1	905	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCTCAAGGAATAAAGAAG	0.493000													46	68					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36275465	36275465	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:36275465C>T	ENST00000394571.2	+	8	1571	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	PNPLA1_ENST00000388715.3_Missense_Mutation_p.S429F|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S438F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	524					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CATTCGGGATCCAAAAAACCA	0.473000													4	18					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303906	53303906	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53303906G>A	ENST00000438150.2	-	2	1926	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	ZNF28_ENST00000360272.4_Missense_Mutation_p.L345F|ZNF28_ENST00000457749.2_Missense_Mutation_p.L398F|ZNF28_ENST00000414252.2_Missense_Mutation_p.L345F			P17035	ZNF28_HUMAN	zinc finger protein 28	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTCTTTCAAGATGTGATTTG	0.378000													43	81					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26994289	26994289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26994289G>A	ENST00000376215.5	+	4	355	c.302G>A	c.(301-303)aGa>aAa	p.R101K	PDSS1_ENST00000376203.5_Missense_Mutation_p.R101K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	101					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CTCGGTTGGAGAGACTTGAAA	0.368000													13	21					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588512	72588512	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72588512G>A	ENST00000392620.1	+	3	689	c.327G>A	c.(325-327)aaG>aaA	p.K109K	C17orf77_ENST00000328023.2_Silent_p.K109K	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	109						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TAGGAGAAAAGAGGTGTCATT	0.428000													46	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467060	179467060	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179467060C>T	ENST00000589042.1	-	283	55293	c.55069G>A	c.(55069-55071)Gaa>Aaa	p.E18357K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15789K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16716K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9417K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9484K|TTN_ENST00000460472.2_Missense_Mutation_p.E9292K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16716	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCAGATTCACCAGCTTCA	0.398000													14	41					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78191355	78191355	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:78191355G>A	ENST00000370793.1	-	12	1667	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	USP33_ENST00000370792.3_Missense_Mutation_p.P441S|USP33_ENST00000370794.3_Missense_Mutation_p.P410S|USP33_ENST00000357428.1_Missense_Mutation_p.P441S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	441					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCTGATTTAGGAGGGCTTGCC	0.403000													26	29					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53126851	53126851	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53126851C>T	ENST00000276480.7	-	7	651		c.e7-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGGTCATTCCTTTGACATTG	0.423000													23	31					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250228	35250228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35250228G>A	ENST00000329285.7	-	4	1851	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCGAGTGAAGGAAGAGCTATA	0.413000													51	93					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327801	88327801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:88327801C>T	ENST00000325089.6	+	2	377	c.158C>T	c.(157-159)cCt>cTt	p.P53L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	53						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATGCATGTCCTTGTGAGGAA	0.478000													38	70					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488399	103488399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103488399C>T	ENST00000358392.2	-	8	1497	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D343N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCATAAAAATCATATTCGCCT	0.363000													28	17					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74315789	74315789	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:74315789C>T	ENST00000263665.6	-	21	2856	c.2829G>A	c.(2827-2829)agG>agA	p.R943R	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	943	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACTGCTAGTCCTATAGAAAA	0.323000													25	45					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371744	240371744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371744C>T	ENST00000319653.9	+	5	3862	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCTCCTCCCTTGCCAGGT	0.642000													5	3					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11072908	11072908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11072908G>A	ENST00000287766.4	+	13	1790	c.1369G>A	c.(1369-1371)Ggc>Agc	p.G457S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G279S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	457					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTCTGCCAGTGGCATGAGCCT	0.478000													75	130					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34838701	34838701	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:34838701G>A	ENST00000192788.5	+	18	3960	c.3789G>A	c.(3787-3789)gaG>gaA	p.E1263E	UHRF1BP1_ENST00000452449.2_Silent_p.E1263E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1263										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCGCTTTGAGGTGGGGCCTG	0.512000													21	19					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85906077	85906077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:85906077C>T	ENST00000373131.1	+	3	803	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	DACH2_ENST00000510272.1_Nonsense_Mutation_p.Q8*|DACH2_ENST00000373125.4_Nonsense_Mutation_p.Q227*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.Q60*	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGAAACTTCAGAAGATGAA	0.363000													19	20					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104378614	104378614	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:104378614G>A	ENST00000392872.3	+	8	1114	c.880G>A	c.(880-882)Gac>Aac	p.D294N	TDG_ENST00000544861.1_Missense_Mutation_p.D151N|TDG_ENST00000266775.9_Missense_Mutation_p.D290N|TDG_ENST00000542036.1_Missense_Mutation_p.D90N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	294					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAACTGAAGGACTTAAGAGA	0.418000								Base excision repair (BER), DNA glycosylases					39	94					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14079442C>T	ENST00000254325.4	-	12	1901	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	556					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662000													36	64					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509480	109509480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109509480C>T	ENST00000257548.5	+	5	637	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP30_ENST00000392784.2_Missense_Mutation_p.R151W	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	182					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R173W(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCGCCAGCCTCGGGTCACACA	0.443000													15	62					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068517	157068517	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157068517G>T	ENST00000454449.2	-	3	751	c.467C>A	c.(466-468)cCc>cAc	p.P156H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACACCCACGGGCACCAGCGC	0.662000													12	29					1.52009e-12	1.54038e-12	1	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999862	112999862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112999862C>T	ENST00000271277.6	+	6	1973	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	583						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACCCATCCCACCCAAGAAA	0.572000													43	31					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69377544	69377544	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:69377544C>T	ENST00000288025.3	-	4	545		c.e4-1		RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6						transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GTGTGCCGTCCTATGAGAGAG	0.438000													36	72					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804787	22804787	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22804787G>T	ENST00000361524.3	-	4	3243	c.3095C>A	c.(3094-3096)aCc>aAc	p.T1032N	ZNF521_ENST00000584787.1_Missense_Mutation_p.T812N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1032N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1032					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTTCCAAGGTGGAGGTCAC	0.517000			T	PAX5	ALL								18	30					5.03518e-11	5.08849e-11	1	1	0
OR2D3	120775	broad.mit.edu	37	11	6942440	6942440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6942440C>T	ENST00000317834.3	+	1	236	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGGATTCTCGCCTTCACAC	0.428000													30	62					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58913713	58913713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:58913713G>A	ENST00000260408.3	-	11	1911	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.P189S	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	490	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTTCCCTCTGGTTGATTTGCA	0.398000													69	79					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22201441	22201441	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22201441G>A	ENST00000374695.3	-	26	3436	c.3357C>T	c.(3355-3357)ccC>ccT	p.P1119P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1119	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTTCCAGCGCGGGGTCCTGGC	0.682000													4	11					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131899914	131899914	+	Silent	SNP	C	C	T	rs150647017	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131899914C>T	ENST00000337738.1	+	9	1101	c.834C>T	c.(832-834)gcC>gcT	p.A278A	PPP2R4_ENST00000452489.2_Silent_p.A278A|PPP2R4_ENST00000355007.3_Silent_p.A201A|PPP2R4_ENST00000358994.4_Silent_p.A243A|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Silent_p.A243A|PPP2R4_ENST00000348141.5_Silent_p.A249A|PPP2R4_ENST00000357197.4_Silent_p.A214A	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	278					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATGAGAAGGCCGTGAATGAGA	0.557000													12	4					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302366	31302366	+	Silent	SNP	C	C	T	rs148607405		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:31302366C>T	ENST00000265071.2	+	6	1225	c.960C>T	c.(958-960)acC>acT	p.T320T	CDH6_ENST00000514738.1_Silent_p.T265T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	320	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATGTCATCACCGACCAGGAAA	0.453000													21	42					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177400	91177400	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91177400C>T	ENST00000371795.4	+	2	657	c.444C>T	c.(442-444)ctC>ctT	p.L148L	IFIT5_ENST00000416601.1_Silent_p.L148L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	148							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GCTGGGCACTCTTGAAATTTG	0.428000													43	55					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8503691	8503691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8503691C>T	ENST00000262648.3	-	12	1932	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	595	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGTCTGCTTTCCGTAGTGACC	0.498000													29	22					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21649177	21649177	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:21649177C>A	ENST00000317571.3	+	4	638	c.402C>A	c.(400-402)atC>atA	p.I134I	TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Silent_p.I73I	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	134							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GGCAGATAATCATAGCTGACT	0.413000													32	51					8.69298e-16	8.84117e-16	1	1	0
PCK1	5105	broad.mit.edu	37	20	56139322	56139322	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:56139322G>A	ENST00000319441.4	+	7	1223	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PCK1_ENST00000535860.1_Silent_p.K221K|PCK1_ENST00000543666.1_Silent_p.K36K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	353					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCATCCAGAAGAACACAATCT	0.527000													30	42					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20748444	20748444	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20748444C>T	ENST00000427401.4	-	1	97	c.3_splice	c.e1+1	p.M1_splice	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Splice_Site_p.M1_splice	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	1					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCACTCTCACCATTTCTAGGC	0.637000													26	61					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431691	89431691	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:89431691G>A	ENST00000532352.1	+	0	1973							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGGCCTGGGGAGATGTGAAG	0.473000													43	79					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105452938	105452938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105452938C>T	ENST00000547315.1	+	1	809	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	57										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			ATCTCCATGCCCCGTGAGGGC	0.602000													26	51					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536191	31536191	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:31536191C>T	ENST00000215885.3	-	1	402	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	50					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTGAGCATCCTTGGCCAGGA	0.662000													29	75					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31157264	31157264	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31157264A>T	ENST00000268281.4	-	6	624	c.566T>A	c.(565-567)cTc>cAc	p.L189H	PRSS36_ENST00000569305.1_Missense_Mutation_p.L189H|PRSS36_ENST00000418068.2_Missense_Mutation_p.L189H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	189	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCCAGGGGAGAGGCAGAGG	0.602000													18	14					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940490	144940490	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144940490G>A	ENST00000525985.1	-	2	7003	c.6932C>T	c.(6931-6933)aCc>aTc	p.T2311I				P58107	EPIPL_HUMAN	epiplakin 1	2311						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGGGGTCGGTGTAGCCGGT	0.697000													19	353					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176636701	176636701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176636701C>T	ENST00000439151.2	+	5	1346	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	NSD1_ENST00000347982.4_Missense_Mutation_p.P165L|NSD1_ENST00000361032.4_Missense_Mutation_p.P331L|NSD1_ENST00000354179.4_Missense_Mutation_p.P165L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	434					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)		TATGATGTTCCCAAGGGGTCA	0.378000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	38					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423611	56423611	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56423611C>T	ENST00000588751.1	-	5	1596	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	NLRP13_ENST00000342929.3_Silent_p.K524K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	524	NACHT.						ATP binding	p.K524N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTCATTGATCTTTTGAAGAA	0.438000													29	44					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18232672	18232672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:18232672C>T	ENST00000262811.5	+	4	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	58							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCAGCAGCCCCTTGGATAGT	0.637000													22	31					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665863	20665863	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20665863C>T	ENST00000357366.3	+	1	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGGCCAACTTCCTCTCTGACA	0.502000													14	19					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42268212	42268212	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42268212T>A	ENST00000319511.6	+	3	1536	c.886T>A	c.(886-888)Ttt>Att	p.F296I	TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.F316I|TMUB2_ENST00000538716.2_Missense_Mutation_p.F316I|TMUB2_ENST00000589785.1_Missense_Mutation_p.F296I|TMUB2_ENST00000446571.3_Missense_Mutation_p.F259I|TMUB2_ENST00000357984.3_Missense_Mutation_p.F296I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	316						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTCCTAGTATTTGGGATGTA	0.517000													53	82					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3386050	3386050	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3386050C>T	ENST00000378378.4	+	6	1320	c.915C>T	c.(913-915)atC>atT	p.I305I	ARHGEF16_ENST00000378371.2_Silent_p.I17I|ARHGEF16_ENST00000378373.1_Silent_p.I17I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	305	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCTGAGCATCCTGGTGGAGG	0.622000													31	29					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82627224	82627224	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:82627224C>T	ENST00000220669.5	-	4	282	c.264G>A	c.(262-264)ctG>ctA	p.L88L	ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Silent_p.L88L|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000523096.1_Silent_p.L88L|ZFAND1_ENST00000521287.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	88							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCAATCACCTCAGGCAAAAAT	0.393000													34	53					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808016	20808016	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20808016G>A	ENST00000601440.1	-	4	813	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTCCAGTATGAATTTTCTTA	0.388000													20	27					0	0	1	0	0
VCX3B	425054	broad.mit.edu	37	X	8434164	8434164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8434164G>A	ENST00000381032.1	+	3	788	c.481G>A	c.(481-483)Gag>Aag	p.E161K	VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.E131K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E161K|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	161	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGCGAGGTGGAGGAACCACT	0.587000													45	346					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916522	13916522	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:13916522G>T	ENST00000285018.4	-	2	524	c.220C>A	c.(220-222)Cag>Aag	p.Q74K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	74					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACTGAAACTGACACTCGTCC	0.612000													25	42					1.42536e-11	1.44175e-11	1	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43522844	43522844	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:43522844G>A	ENST00000430334.3	-	9	2962	c.2829C>T	c.(2827-2829)ctC>ctT	p.L943L	PLEKHM1_ENST00000421073.2_Silent_p.L854L|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	943					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACCTCTTGCTGAGCTCCTTCA	0.557000													15	23					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693073	75693073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75693073C>T	ENST00000394947.3	-	11	2049	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	SIN3A_ENST00000360439.4_Missense_Mutation_p.E579K|SIN3A_ENST00000394949.4_Missense_Mutation_p.E579K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	579	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGCCTTACCTCTTTACAGAGA	0.463000													9	14					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73979610	73979610	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73979610G>A	ENST00000297354.6	-	5	965	c.761C>T	c.(760-762)tCt>tTt	p.S254F	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	254					immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.S249C(1)									AGCTGGACAAGAACACTGGTC	0.353000													18	34					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22178595	22178595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22178595G>A	ENST00000374695.3	-	53	6935	c.6856C>T	c.(6856-6858)Cct>Tct	p.P2286S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2286	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCGGGCAGGGAGGCTGCCC	0.667000													16	47					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371745	240371745	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371745C>T	ENST00000319653.9	+	5	3863	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACCTCCTCCCTTGCCAGGTA	0.642000													5	3					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505937	44505937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:44505937G>A	ENST00000255152.2	+	2	949	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R241Q	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	247							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CGAGAAAGTCGAGTGGTGCAC	0.532000													34	49					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380099	231380099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380099C>T	ENST00000264052.5	+	25	2739	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	795					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTGGCCTGTCCATTGATGAT	0.463000													23	22					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140391671	140391671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140391671C>T	ENST00000406427.1	-	18	2317	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636R|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	636					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGTACTCCCCGGCCAGGCGC	0.667000													8	7					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631110	74631110	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74631110C>T	ENST00000358632.4	-	8	1458		c.e8-1		CYP11A1_ENST00000419019.2_Splice_Site|CYP11A1_ENST00000268053.6_Splice_Site	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCACCAGTGTCTGGGGCAAGG	0.582000													16	22					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008175	46008175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46008175G>A	ENST00000296137.2	-	8	2856	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	FYCO1_ENST00000535325.1_Missense_Mutation_p.S884F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	884					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCTTCCTCGGAGCTGCATTT	0.657000													11	23					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	981721	981721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:981721G>A	ENST00000247933.4	+	2	371	c.283G>A	c.(283-285)Gag>Aag	p.E95K	IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR|IDUA_ENST00000453894.1_Intron	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	95					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CTGGCTGCTGGAGCTTGTCAC	0.677000													3	11					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571959	101571959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:101571959G>A	ENST00000326172.5	+	5	704	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97R|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ACCAACGCCCGGGGAGAGCAT	0.438000													30	49					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5749141	5749141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:5749141G>A	ENST00000381624.3	+	11	995	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	312						integral to membrane											TATAACTCGGGAGGATAATTT	0.403000													23	12					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716089	1716089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:1716089G>A	ENST00000397412.3	+	15	2867	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R920Q|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R923Q|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.R301Q|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	923						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGTTCGTTCCGGCCCATCCAG	0.627000													4	8					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2613060	2613060	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2613060C>T	ENST00000402050.2	+	6	587	c.403C>T	c.(403-405)Cct>Tct	p.P135S	IQCE_ENST00000438376.2_Missense_Mutation_p.P119S|IQCE_ENST00000404984.1_Missense_Mutation_p.P84S|IQCE_ENST00000325979.7_Missense_Mutation_p.P70S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	135										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGGTCATGTCCCTGGGACTCC	0.348000													17	39					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824683	124824683	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824683G>A	ENST00000356219.3	-	38	5732	c.5577C>T	c.(5575-5577)tcC>tcT	p.S1859S	NCOR2_ENST00000404621.1_Silent_p.S1842S|NCOR2_ENST00000429285.2_Silent_p.S1842S|NCOR2_ENST00000405201.1_Silent_p.S1852S|NCOR2_ENST00000404121.2_Silent_p.S1413S|NCOR2_ENST00000397355.1_Silent_p.S1843S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1863					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGGGCATGGGAGTGGGAGG	0.667000													34	26					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246017	33246017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33246017C>T	ENST00000404816.2	+	3	960	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	LTBP1_ENST00000354476.3_Missense_Mutation_p.R203W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	203	EGF-like 1.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GATGTGTCTCCGGCCACAACT	0.502000													104	168					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457162	20457162	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20457162C>T	ENST00000426804.1	-	1	4624	c.4140G>A	c.(4138-4140)aaG>aaA	p.K1380K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCTGCTCCTCCTTCAAAACGT	0.587000													9	16					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468506	52468506	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52468506T>C	ENST00000243644.4	-	5	1427	c.1200A>G	c.(1198-1200)agA>agG	p.R400R	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	400					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AGCCATAGGGTCTCTCTCCTG	0.453000													17	28					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270783	113270783	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113270783C>T	ENST00000303941.3	+	8	2186	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	698							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCGCCCACCTGGCCGCCCT	0.627000													24	28					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118827128	118827128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118827128G>A	ENST00000264031.2	+	1	103	c.68G>A	c.(67-69)gGg>gAg	p.G23E	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	23					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTGTCCCCAGGGGCTGCAGGT	0.642000													24	29					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999357	72999357	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72999357C>T	ENST00000322038.5	+	2	2444	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	TSHZ1_ENST00000580243.1_Silent_p.S665S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	665						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGAGCTCCCTGGCCAAGG	0.557000													26	46					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750011	8750011	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:8750011C>T	ENST00000276282.6	-	1	1144	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	186										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCCACGTCCAGGGTGCGCA	0.682000													8	8					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68624319	68624319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:68624319G>A	ENST00000423218.2	-	14	1743	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	ITGA11_ENST00000315757.7_Nonsense_Mutation_p.R550*			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	550					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TTGAGGTCTCGAACTGAGGCA	0.537000													10	14					0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69207908	69207908	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:69207908C>T	ENST00000377938.2	+	6	616	c.553C>T	c.(553-555)Cta>Tta	p.L185L		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	185					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GACCAGTGTACTATGGATTGT	0.373000													20	29					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908778	24908778	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24908778G>A	ENST00000396432.2	-	9	2532	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	ARHGAP21_ENST00000320481.6_Silent_p.S469S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	681					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATAAAGAGGGGGATTTCCCAG	0.483000													17	37					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137500054	137500054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137500054C>T	ENST00000254900.5	-	13	2151	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	BRD8_ENST00000455658.2_Missense_Mutation_p.E553K|BRD8_ENST00000402931.1_Missense_Mutation_p.E594K|BRD8_ENST00000230901.5_Missense_Mutation_p.E667K|BRD8_ENST00000411594.2_Missense_Mutation_p.E597K|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	594					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGGATCTTCAATGGGATTT	0.413000													35	72					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150022	20150022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:20150022C>T	ENST00000245957.5	+	13	1379	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.Q435*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.Q435*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	435										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTCCTCATCCAGAACTTCGT	0.458000													25	51					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721087	135721087	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:135721087C>T	ENST00000264977.3	+	2	1364	c.747C>T	c.(745-747)atC>atT	p.I249I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	249					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCACAGACATCATAAAACAAT	0.318000													18	25					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439428	145439428	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145439428G>A	ENST00000511217.1	+	8	1607		c.e8-1		SH3RF2_ENST00000359120.4_Splice_Site|SH3RF2_ENST00000511705.1_Splice_Site			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2								ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCCCCAGATGGATCCCT	0.597000													15	42					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652273	31652273	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31652273C>T	ENST00000375494.3	+	7	663	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	221	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GCCTGGTGTCCCTTGGGGCTC	0.527000													15	33					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405125	89405125	+	RNA	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:89405125A>T	ENST00000532352.1	+	0	1065							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGAGTGGAGCAGCTGTTGTTC	0.418000													25	43					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51135298	51135298	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:51135298G>A	ENST00000301180.5	+	37	4488	c.4454G>A	c.(4453-4455)cGg>cAg	p.R1485Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1485						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCGGTGTCCCGGATCCACAGA	0.463000													27	36					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2308911	2308911	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2308911G>A	ENST00000381458.5	+	9	1296	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	411					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACAGTGGAAGAATTCCGTGA	0.537000													26	54					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118723541	118723541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118723541G>A	ENST00000371527.1	-	2	2499	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	NKRF_ENST00000304449.5_Missense_Mutation_p.S616F|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.S631F	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	616	R3H.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGGCTCTCGGAGCGGGCGTA	0.443000													60	96					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910196	32910196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:32910196C>A	ENST00000304056.4	-	4	1332	c.633G>T	c.(631-633)caG>caT	p.Q211H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	211										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			AAGACAAATACTGGGATCGTG	0.403000													37	72					1.30998e-17	1.33394e-17	1	1	0
IGHV1-18	28468	broad.mit.edu	37	14	106641986	106641986	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106641986G>A	ENST00000390605.2	-	0	70																											GGATGCTCCAGGTCCAGTCCA	0.542000													10	20					0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49373452	49373452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49373452G>A	ENST00000293549.3	+	2	342	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	102					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ATCGCCGCTGGAACTGTCCCA	0.662000													20	32					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351463	36351463	+	Silent	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36351463A>T	ENST00000360202.5	+	7	1020	c.822A>T	c.(820-822)ccA>ccT	p.P274P	KIRREL2_ENST00000347900.6_Silent_p.P224P|KIRREL2_ENST00000586102.2_Silent_p.P254P|KIRREL2_ENST00000262625.7_Silent_p.P274P|KIRREL2_ENST00000592409.1_Silent_p.P274P|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	274	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGCGGGCCAAGGTTAGAGG	0.647000													33	49					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057805	152057805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152057805C>T	ENST00000368806.1	-	3	2417	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	785							calcium ion binding	p.D785Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTCTTGGTCTCTCTGCATC	0.488000													40	43					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395579	160395579	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:160395579C>A	ENST00000320767.2	+	1	632	c.445C>A	c.(445-447)Cgg>Agg	p.R149R		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	149					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TTGCAGTGACCGGAACTGGTA	0.502000													27	31					7.92952e-12	8.02318e-12	1	1	0
HFM1	164045	broad.mit.edu	37	1	91731618	91731618	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:91731618G>A	ENST00000370425.3	-	36	4028	c.3930C>T	c.(3928-3930)ccC>ccT	p.P1310P	HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Silent_p.P989P|HFM1_ENST00000462405.1_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1310							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACTCTTGAAGGGGTAGCTTAC	0.363000													14	45					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377331	8377331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8377331G>A	ENST00000538603.1	-	4	656	c.98C>T	c.(97-99)cCc>cTc	p.P33L	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	33							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ATCGGGCGGGGGAGCCCTTGG	0.642000													3	4					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55513685	55513685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:55513685C>T	ENST00000500968.3	-	2	1770	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	563					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGCACTGCTTCCTAGGTGCTC	0.468000													20	34					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557097	52557097	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52557097G>T	ENST00000321725.6	+	63	7043	c.6967G>T	c.(6967-6969)Ggg>Tgg	p.G2323W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2323	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACGTGCAATGGGAAGCTGCT	0.627000													43	85					3.05275e-18	3.11142e-18	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153914419	153914419	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:153914419G>A	ENST00000361217.4	-	6	1399	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	327	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAAGGCAGGGAAGGCAGGCC	0.692000													12	18					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30309968	30309968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30309968C>T	ENST00000376659.5	+	8	1997	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S	TRIM39_ENST00000396551.3_Missense_Mutation_p.P467S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P467S|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Missense_Mutation_p.P467S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P497S|TRIM39_ENST00000396547.1_Missense_Mutation_p.P497S	NM_172016.2	NP_742013.1			tripartite motif containing 39									p.P497S(1)		ovary(3)	3						CCTCTTCTACCCAGGCATCCG	0.527000													31	14					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47678978	47678978	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47678978G>A	ENST00000397708.1	-	17	3863	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.V1203V|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1203					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGGCCACACGGACCCTCTGGT	0.537000													5	85					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010872	59010872	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59010872C>T	ENST00000263093.2	-	7	1763	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AAGGTGTCCCCGAGGCGGTCG	0.667000													15	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585147	179585147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179585147C>T	ENST00000589042.1	-	80	23566	c.23342G>A	c.(23341-23343)gGa>gAa	p.G7781E	TTN_ENST00000342992.6_Missense_Mutation_p.G6537E|TTN_ENST00000591111.1_Missense_Mutation_p.G7464E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7464	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTGTCACTTCCCACCTCATT	0.383000													32	59					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42954791	42954791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:42954791C>T	ENST00000541208.1	+	4	619	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCTGATTTGTCCGGGTAAGTG	0.423000													19	33					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355470	21355470	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21355470G>A	ENST00000256958.2	+	10	1277	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.G394E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTAGGAGGATATATCATT	0.289000													15	26					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497159	152497159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:152497159G>A	ENST00000397345.3	-	61	8597	c.8395C>T	c.(8395-8397)Cgt>Tgt	p.R2799C	NEB_ENST00000409198.1_Missense_Mutation_p.R2799C|NEB_ENST00000172853.10_Missense_Mutation_p.R2799C|NEB_ENST00000427231.2_Missense_Mutation_p.R2799C|NEB_ENST00000604864.1_Missense_Mutation_p.R2799C|NEB_ENST00000603639.1_Missense_Mutation_p.R2799C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2799					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTGCTTACGATAGCCTTCT	0.433000													43	81					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99064191	99064191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99064191C>T	ENST00000376586.2	+	16	2065	c.1729C>T	c.(1729-1731)Ccg>Tcg	p.P577S	FARP1_ENST00000319562.6_Missense_Mutation_p.P577S|FARP1_ENST00000595437.1_Missense_Mutation_p.P577S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	577	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACGCCATGCCGGAAGCACT	0.443000													47	119					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147063088	147063088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147063088G>A	ENST00000370467.3	+	1	240	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	56						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)					GCCTCAGCCAGGATGGCGGGA	0.547000													39	63					0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151019	69151019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:69151019G>A	ENST00000273258.3	+	2	310	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	69					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ATGATCCTGGGAGGAATCGTG	0.493000													14	23					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136141885	136141885	+	Splice_Site	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:136141885A>C	ENST00000383202.2	-	17	1908	c.1650_splice	c.e17-1	p.V551_splice	STAG1_ENST00000236698.5_Splice_Site_p.V551_splice|STAG1_ENST00000434713.2_Splice_Site_p.V325_splice|STAG1_ENST00000536929.1_Splice_Site_p.V135_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	551					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGCAGTTAGCACCTAGAAACA	0.299000													8	10					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471080	132471080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132471080C>T	ENST00000333577.4	+	7	2168	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	EP400_ENST00000389561.2_Missense_Mutation_p.P651S|EP400_ENST00000330386.6_Missense_Mutation_p.P651S|EP400_ENST00000389562.2_Missense_Mutation_p.P650S|EP400_ENST00000332482.4_Missense_Mutation_p.P614S			Q96L91	EP400_HUMAN	E1A binding protein p400	687					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACAAGGCTCCCTGTGGACCC	0.657000													39	95					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112177570	112177570	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:112177570C>T	ENST00000457016.1	+	16	6659	c.6279C>T	c.(6277-6279)tcC>tcT	p.S2093S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S2093S|APC_ENST00000257430.4_Silent_p.S2093S			P25054	APC_HUMAN	adenomatous polyposis coli	2093	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGGTCTATCCCCTGATTCAG	0.378000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			34	65					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200389	123200389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123200389G>A	ENST00000528880.2	-	1	1050	c.896C>T	c.(895-897)cCa>cTa	p.P299L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	299						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GGGAAAGGATGGGCTGGAGAA	0.527000													26	16					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753296	76753296	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:76753296C>T	ENST00000536229.3	+	1	1615	c.906C>T	c.(904-906)ctC>ctT	p.L302L	SALL3_ENST00000575389.2_Silent_p.L435L|SALL3_ENST00000537592.2_Silent_p.L435L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACAGCGCGCTCCAGATCCACC	0.612000													8	13					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39127891	39127891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:39127891G>A	ENST00000351578.6	-	11	2049	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	FYB_ENST00000512982.1_Missense_Mutation_p.P620L|FYB_ENST00000540520.1_Missense_Mutation_p.P630L|FYB_ENST00000515010.1_Missense_Mutation_p.P620L|FYB_ENST00000505428.1_Missense_Mutation_p.P620L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	620	Poly-Pro.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTCATCATCTGGTGGTGGAGG	0.328000													6	10					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4085590	4085590	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4085590G>A	ENST00000341657.4	-	15	2042	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.L670L|ANKFY1_ENST00000570535.1_Silent_p.L711L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	669						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CATCAACTACGAGTGGAAGCT	0.557000													52	107					0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133378999	133378999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:133378999G>A	ENST00000517294.1	+	3	552	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	57										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAAGTTTCAGGAAGAAAGTAA	0.313000													11	9					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122808107	122808107	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:122808107C>T	ENST00000316218.7	+	2	230	c.135C>T	c.(133-135)acC>acT	p.T45T		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	45					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTCAGAACCCGGAATAATG	0.527000													40	74					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632828	169632828	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:169632828C>T	ENST00000335742.7	+	10	1929	c.572C>T	c.(571-573)tCc>tTc	p.S191F	PALLD_ENST00000512127.1_Missense_Mutation_p.S191F|PALLD_ENST00000505667.1_Missense_Mutation_p.S573F|PALLD_ENST00000261509.6_Missense_Mutation_p.S573F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	573					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGACAAGTTCCTTGGAGTTG	0.478000									Pancreatic Cancer, Familial Clustering of				25	28					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216629	2216629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:2216629C>T	ENST00000398665.3	+	20	2309	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	758						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCCGGCCGCGCCTGGAG	0.677000													27	21					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718348	142718348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142718348G>A	ENST00000381779.4	-	2	802	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L193F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L193F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	193						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAAGGGAGCTTCTGGATT	0.418000													47	71					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846284	47846284	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:47846284A>G	ENST00000339488.4	-	3	2329	c.2296T>C	c.(2296-2298)Ttt>Ctt	p.F766L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	766						integral to membrane	hedgehog receptor activity										CCAATAAGAAAAGAAGTAACA	0.443000													14	12					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520508	33520508	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:33520508C>T	ENST00000297307.5	-	1	904	c.819G>A	c.(817-819)gcG>gcA	p.A273A		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	273	DUF6 2.					integral to membrane											CCTTGGTGACCGCATAGCCCA	0.592000													52	103					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973130	115973130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:115973130G>A	ENST00000251864.2	+	15	2010	c.1857G>A	c.(1855-1857)tgG>tgA	p.W619*	TDRD1_ENST00000369280.1_Nonsense_Mutation_p.W619*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.W562*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.W223*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.W619*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	619					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAGGAATTTGGACTCCAGAAG	0.353000													27	52					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	39994346	39994346	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39994346G>A	ENST00000293303.4	+	1	315	c.162G>A	c.(160-162)aaG>aaA	p.K54K	KLHL10_ENST00000485613.1_Intron	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	54	BTB.					cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GTGCCCATAAGAACATCCTCT	0.468000													25	41					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555680	15555680	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15555680G>A	ENST00000281513.5	-	25	2952	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	976										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						ATCTGGTTTGGAATGCTGAAA	0.343000													19	41					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99043110	99043110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99043110G>A	ENST00000376586.2	+	11	1400	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	FARP1_ENST00000319562.6_Missense_Mutation_p.G355E|FARP1_ENST00000595437.1_Missense_Mutation_p.G355E			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	355					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAGAAGGAGGACATAAGAAG	0.443000													34	50					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208341	53208341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:53208341G>A	ENST00000262593.5	+	5	946	c.596G>A	c.(595-597)gGg>gAg	p.G199E	DOK5_ENST00000395939.1_Missense_Mutation_p.G91E	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	199	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTGAGGCAGGGAGGTGAGTT	0.458000													15	42					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731267	21731267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:21731267C>T	ENST00000584755.1	+	2	966	c.569C>T	c.(568-570)cCg>cTg	p.P190L	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.P190R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCGATCAGCAGA	0.547000													23	41					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243018	141243018	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141243018C>T	ENST00000389484.3	-	59	10290	c.9319G>A	c.(9319-9321)Gaa>Aaa	p.E3107K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3107					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)		ATTCTTTTTTCTGTGTCAGAC	0.393000										TSP Lung(27;0.18)			18	41					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9246163	9246163	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:9246163A>T	ENST00000318602.7	-	18	2445	c.2138T>A	c.(2137-2139)aTg>aAg	p.M713K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	713	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCTCTTCCCATTACATCTGA	0.433000													8	10					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701185	17701185	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17701185C>T	ENST00000353383.1	+	3	5392	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1641	Ser-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		cctcgttctcctTGGATGCAG	0.647000													22	37					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167368547	167368547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167368547G>A	ENST00000367862.5	+	12	1596	c.1361G>A	c.(1360-1362)aGt>aAt	p.S454N	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.S442N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S442N|POU2F1_ENST00000429375.2_Missense_Mutation_p.S402N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S465N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	442					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCACCAAGCAGTGGTGGGACC	0.433000													48	51					0	0	1	0	0
ARMC7	79637	broad.mit.edu	37	17	73125084	73125084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73125084C>T	ENST00000245543.1	+	3	850	c.548C>T	c.(547-549)tCt>tTt	p.S183F	ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	183							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGCGCACTCTGCCCTGGGT	0.697000													21	13					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68367938	68367938	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68367938T>A	ENST00000393799.2	+	20	2435	c.2168T>A	c.(2167-2169)tTt>tAt	p.F723Y	PPP6R3_ENST00000524845.1_Missense_Mutation_p.F694Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.F723Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.F643Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.F677Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.F723Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.F491Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.F643Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.F688Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.F717Y			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	723					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGGCTTCTTTTTCAGAGTTC	0.537000													17	31					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169576	45169576	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45169576C>T	ENST00000260653.3	+	1	675	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	111					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGGCCGCTTCCTCTGGTCGC	0.692000													10	21					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680239	6680239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6680239C>T	ENST00000377648.4	+	3	900	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	173					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGGACTCCGATACTCCC	0.587000													11	23					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370429	38370429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:38370429C>T	ENST00000322350.5	+	6	923	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	EGFLAM_ENST00000354891.3_Missense_Mutation_p.H193Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	193	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACCTCAATCCATGAGCGGAT	0.493000													20	31					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100278	168100278	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168100278C>T	ENST00000409195.1	+	9	2465	c.2376C>T	c.(2374-2376)gtC>gtT	p.V792V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V792V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V570V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	617					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAAAGTTGTCCGAGGAATAT	0.408000													24	47					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049555	81049555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81049555C>T	ENST00000334512.5	+	9	1021	c.449C>T	c.(448-450)tCt>tTt	p.S150F	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	150					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCTATGACTCTGTCCCTTGG	0.602000													30	61					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425817	88425817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:88425817C>T	ENST00000393750.3	-	2	149	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E40K			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	40					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGCACGATTTCCGACACCCCC	0.527000													86	159					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106808122	106808122	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:106808122G>A	ENST00000276185.4	+	13	1221	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	407	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACCAGGATGAGAAGCAGTCGG	0.557000													93	114					0	0	1	0	0
MT1X	4501	broad.mit.edu	37	16	56717159	56717159	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:56717159C>T	ENST00000562939.1	+	2	182	c.111C>T	c.(109-111)ttC>ttT	p.F37F	RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000394485.4_Intron			P80297	MT1X_HUMAN	metallothionein 1X	37	Alpha.				response to metal ion		metal ion binding			kidney(2)	2						GCAGGGCCTTCCCTGCGAATC	0.572000													29	22					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113391	59113391	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:59113391G>A	ENST00000395153.3	+	4	2086	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	DACT1_ENST00000395151.3_Missense_Mutation_p.E403K|DACT1_ENST00000556859.1_Missense_Mutation_p.E403K|DACT1_ENST00000541264.2_Missense_Mutation_p.E403K|DACT1_ENST00000335867.4_Missense_Mutation_p.E684K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	684					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTCCTCGGCCGAGATTTCCTA	0.692000													12	23					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643936	53643936	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53643936C>T	ENST00000452676.2	-	5	2574	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G716G|ZNF347_ENST00000334197.7_Silent_p.G715G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAAGGCTTTCCCACACTGAT	0.423000													47	87					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18327005	18327005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18327005G>A	ENST00000396253.3	-	7	980	c.518C>T	c.(517-519)tCc>tTc	p.S173F	HPS5_ENST00000438420.2_Missense_Mutation_p.S173F|HPS5_ENST00000349215.3_Missense_Mutation_p.S287F|HPS5_ENST00000531848.1_Missense_Mutation_p.S173F	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	287						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAAGACTGGGAGGATCCAGC	0.338000									Hermansky-Pudlak syndrome				18	39					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145093100	145093100	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:145093100C>T	ENST00000367545.3	+	58	8553	c.8553C>T	c.(8551-8553)tcC>tcT	p.S2851S	UTRN_ENST00000367526.4_Silent_p.S406S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2851	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTTCAATCCCTTGGTAAGT	0.274000													5	54					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55253116	55253116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:55253116G>A	ENST00000381298.2	-	9	1289	c.977C>T	c.(976-978)cCa>cTa	p.P326L	IL6ST_ENST00000336909.5_Missense_Mutation_p.P326L|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381294.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	326	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTAGATGGTCCTAAAGA	0.303000			O		hepatocellular ca								29	50					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902874	24902874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:24902874G>A	ENST00000313367.2	-	9	1266	c.815C>T	c.(814-816)tCg>tTg	p.S272L	OSBPL3_ENST00000396429.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	272					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCTCCTGTGCGATCTTTTTTC	0.458000													36	48					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115430287	115430287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:115430287G>A	ENST00000369522.3	+	15	1471	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E411K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	411					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTACCATGGAGCTTCAAAA	0.249000													7	37					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514363	70514363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70514363C>T	ENST00000535149.1	+	3	1011	c.368C>T	c.(367-369)tCc>tTc	p.S123F	NONO_ENST00000276079.8_Missense_Mutation_p.S212F|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S212F|NONO_ENST00000373841.1_Missense_Mutation_p.S212F	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	212	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTGAAGGCTCCTTCCTGCTA	0.488000			T	TFE3	papillary renal cancer								12	13					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115391	68115391	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68115391C>T	ENST00000294304.7	+	2	274	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	56	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGTCCACCATCGTGGTCA	0.637000													28	43					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39711393	39711393	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:39711393G>A	ENST00000216146.4	-	5	842	c.669C>T	c.(667-669)acC>acT	p.T223T	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.T171T	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	223					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					CTTTGCCCTTGGTCACCCCGA	0.577000													71	77					0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89702965	89702965	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:89702965G>A	ENST00000393092.3	+	5	686	c.395G>A	c.(394-396)gGg>gAg	p.G132E	DPEP1_ENST00000261615.4_Missense_Mutation_p.G132E|DPEP1_ENST00000421184.1_Missense_Mutation_p.G132E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	132					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	TTCCGGGAAGGGAAGGTGGCC	0.662000													26	30					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47539225	47539225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47539225G>A	ENST00000602212.1	+	6	746	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.E176K|NPAS1_ENST00000439365.2_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	176	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCGGCAGGTGGAGATGACGGG	0.682000											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184378	153184378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153184378G>A	ENST00000370028.3	-	8	1117	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P291S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P314S|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P293S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	314					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTGGAGGATCCAGGGCC	0.647000													63	79					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351847	36351847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36351847C>T	ENST00000360202.5	+	8	1163	c.965C>T	c.(964-966)tCc>tTc	p.S322F	KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S302F|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	322	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCCGTGTCCGTGGACGTG	0.677000													9	29					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25655810	25655810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:25655810C>T	ENST00000376436.1	-	4	2653	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R705K|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673K					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTGTATTCTTTCATGCAC	0.453000													61	108					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648905	75648905	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75648905G>A	ENST00000361470.2	+	1	860	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	194	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCCTGATGAGGGACCAAGCA	0.697000													6	24					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	rs121913384		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:21971096C>T	ENST00000579755.1	-	2	597	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	4					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772433	229772433	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:229772433C>T	ENST00000258243.2	+	4	2209	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	691						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACTAGTTTCCGGTCTGAAG	0.438000													113	38					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89845978	89845978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89845978C>T	ENST00000370456.4	+	6	752	c.659C>T	c.(658-660)cCc>cTc	p.P220L	GBP6_ENST00000535065.1_Missense_Mutation_p.P90L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	220							GTP binding|GTPase activity	p.P220L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCAATTTTCCCAGGGAGTGC	0.403000													15	34					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21698455	21698455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21698455G>A	ENST00000328843.6	+	30	5180	c.5149G>A	c.(5149-5151)Gaa>Aaa	p.E1717K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1712K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1717	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						GACTATGCAAGAAACGGTGCG	0.423000									Kartagener syndrome				10	8					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148568458	148568458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148568458G>A	ENST00000340855.6	-	8	1387	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	IDS_ENST00000541269.1_Missense_Mutation_p.P182L|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	393						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTTATACCTGGCTCCATCAA	0.433000													29	40					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167114	6167114	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6167114G>A	ENST00000261405.5	-	14	1884	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	544	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACCCGGGGCTCCGCCAGC	0.662000													24	67					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370528	126370528	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126370528C>T	ENST00000394329.3	+	9	8370	c.8357C>T	c.(8356-8358)cCc>cTc	p.P2786L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1084L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2786	Cadherin 27.				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						GAAAATTCCCCCTTAGGATAC	0.363000													63	68					0	0	1	0	0
ZNF747	65988	broad.mit.edu	37	16	30544332	30544332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30544332G>A	ENST00000569360.1	-	3	653	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ZNF747_ENST00000568028.1_Missense_Mutation_p.R161W|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.R161W			Q9BV97	ZN747_HUMAN	zinc finger protein 747	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CTCCGGCGCCGGGCCTTGGAC	0.711000													25	21					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155750157	155750157	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:155750157G>A	ENST00000159060.2	-	9	1018	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	306	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTTCCAGGACTCCAGAG	0.488000													39	30					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233999	61233999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:61233999G>A	ENST00000382768.1	+	7	1033	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E325K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	325					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TATCTTTGATGAAACGAGGGC	0.443000													75	110					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118656871	118656871	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118656871G>A	ENST00000264018.4	-	2	395	c.90C>T	c.(88-90)ggC>ggT	p.G30G	DDX6_ENST00000534980.1_Silent_p.G30G|DDX6_ENST00000526070.2_Silent_p.G30G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	30					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTCCTCCAGGGCCACCAGTGG	0.502000			T	IGH@	B-NHL								32	56					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31917212	31917212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31917212G>A	ENST00000456570.1	+	22	2847	c.2792G>A	c.(2791-2793)gGg>gAg	p.G931E	CFB_ENST00000477310.1_Missense_Mutation_p.G780E|CFB_ENST00000556679.1_Missense_Mutation_p.G931E|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Missense_Mutation_p.G429E			P00751	CFAB_HUMAN	complement factor B	429					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TATGTGTTTGGGGTCGGGCCT	0.478000													23	17					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611616	17611616	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17611616G>A	ENST00000252595.7	+	10	1664	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344K|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	523					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCACCACCGAGGTGGAGGG	0.657000													12	32					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075788	83075788	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:83075788C>T	ENST00000369750.3	+	2	1727	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	TPBG_ENST00000535040.1_Silent_p.F370F|TPBG_ENST00000543496.1_Silent_p.F370F			Q13641	TPBG_HUMAN	trophoblast glycoprotein	370					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGCTATTTTCCTCCTGGTTT	0.463000													31	27					0	0	1	0	0
VCX3B	425054	broad.mit.edu	37	X	8434194	8434194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8434194G>A	ENST00000381032.1	+	3	818	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	VCX3B_ENST00000381029.4_Missense_Mutation_p.E139K|VCX3B_ENST00000444481.1_Missense_Mutation_p.E141K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E171K|VCX3B_ENST00000440654.2_Missense_Mutation_p.E121K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	171	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGCGAGGTGGAAGAACCACT	0.587000													36	315					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115502	15115502	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:15115502G>T	ENST00000253699.3	-	14	2755	c.2142C>A	c.(2140-2142)ccC>ccA	p.P714P	ZFYVE20_ENST00000476527.2_Silent_p.P714P	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	714	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGATACAGGTGGGTTCCTCAA	0.562000													38	70					1.66425e-11	1.68238e-11	1	1	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466137	24466137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:24466137C>T	ENST00000382137.3	-	3	361	c.293G>A	c.(292-294)gGa>gAa	p.G98E	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G98E|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	98	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GCCATGTTTTCCTGGGGATCC	0.517000													26	87					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40398045	40398045	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40398045G>A	ENST00000221347.6	-	14	6929	c.6922C>T	c.(6922-6924)Cct>Tct	p.P2308S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2308						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACTGCAGGACAGAGGCCT	0.692000													20	58					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64421611	64421611	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64421611C>T	ENST00000358025.3	+	8	995	c.765C>T	c.(763-765)atC>atT	p.I255I	SYNE2_ENST00000356081.3_Silent_p.I255I|SYNE2_ENST00000344113.4_Silent_p.I255I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I255I|SYNE2_ENST00000341472.5_Silent_p.I255I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	255	Actin-binding.|CH 2.				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)		AATTAAAAATCCCCAGATTGC	0.368000													21	33					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94204083	94204083	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:94204083A>G	ENST00000515393.1	-	17	2390	c.2391T>C	c.(2389-2391)agT>agC	p.S797S	MCTP1_ENST00000505078.1_Silent_p.S313S|MCTP1_ENST00000429576.2_Silent_p.S530S|MCTP1_ENST00000312216.8_Silent_p.S576S|MCTP1_ENST00000505208.1_Silent_p.S576S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	797					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATCAAAGCAACTATTAACGT	0.348000													15	13					0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185552944	185552944	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:185552944C>T	ENST00000308394.4	-	6	720	c.458G>A	c.(457-459)gGa>gAa	p.G153E	CASP3_ENST00000393588.4_Missense_Mutation_p.G153E|CASP3_ENST00000393585.2_Missense_Mutation_p.G153E|CASP3_ENST00000517513.1_Missense_Mutation_p.G153E|CASP3_ENST00000523916.1_Missense_Mutation_p.G153E	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	153					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGGGTTTTCCAGTTAGACT	0.353000													16	39					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799719	67799719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67799719G>A	ENST00000544246.1	-	2	3545	c.2854C>T	c.(2854-2856)Cca>Tca	p.P952S	PCDH9_ENST00000377865.2_Missense_Mutation_p.P952S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	952					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTGTCTGGTTTGAGATGA	0.507000													37	71					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968645	138968645	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138968645C>T	ENST00000288561.8	+	15	2994	c.2745C>T	c.(2743-2745)ccC>ccT	p.P915P	UBN2_ENST00000473989.2_Silent_p.P998P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	998	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGTCCCACCCCCTGGTTTCTA	0.493000													30	67					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420763	8420763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8420763G>A	ENST00000337907.3	-	19	3438	c.2804C>T	c.(2803-2805)cCc>cTc	p.P935L	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.P667L|RERE_ENST00000400908.2_Missense_Mutation_p.P935L|RERE_ENST00000476556.1_Missense_Mutation_p.P381L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	935	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGGGGGATGGGAGTGGTAGG	0.697000													12	26					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518076	195518076	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195518076G>A	ENST00000463781.3	-	2	834	c.375C>T	c.(373-375)tcC>tcT	p.S125S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S125S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	130					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGTGACACTGGAGGGAAATG	0.448000													20	35					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55515083	55515083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:55515083G>A	ENST00000500968.3	-	2	372	c.290C>T	c.(289-291)cCc>cTc	p.P97L	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	97	Pro-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CGGGCAAACGGGCGAGGAGCT	0.756000													7	10					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627144	28627144	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28627144C>T	ENST00000264716.4	+	2	1136	c.273C>T	c.(271-273)gtC>gtT	p.V91V	FOSL2_ENST00000545753.1_Silent_p.V52V|FOSL2_ENST00000379619.1_Silent_p.V66V|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	91					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGCCTCTGTCCCTGGACACA	0.637000													54	82					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29324271	29324271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:29324271G>A	ENST00000535306.2	+	5	770	c.756G>A	c.(754-756)tgG>tgA	p.W252*	RNF135_ENST00000324689.4_Nonsense_Mutation_p.W176*|RNF135_ENST00000443677.2_Nonsense_Mutation_p.W128*|RNF135_ENST00000328381.5_Missense_Mutation_p.E231K	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN	ring finger protein 135	0	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AGAACTCCTGGAAGCCCCGTC	0.483000													34	50					0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737767	62737767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62737767C>T	ENST00000369768.1	-	1	757	c.418G>A	c.(418-420)Gtg>Atg	p.V140M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	140						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TATCGGTCCACGCTCATCACG	0.647000													16	29					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147344	54147344	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:54147344G>A	ENST00000265572.3	-	3	882	c.585C>T	c.(583-585)gtC>gtT	p.V195V	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.V195V|OPRK1_ENST00000524278.1_Silent_p.V106V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	195					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGCCTCCAAGGACTATTGCAG	0.438000													20	67					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713044	70713044	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70713044G>A	ENST00000530196.1	-	0	1474					NR_003951.1																						AAAAGCACAGGGAGCCCCAGG	0.488000													19	29					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149782189	149782189	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:149782189C>T	ENST00000353334.6	-	7	805		c.e7-1		CD74_ENST00000009530.7_Splice_Site|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Splice_Site	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain						antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGTGACTCTGCAAAGGAG	0.592000			T	ROS1	NSCLC								51	71					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010777	78010777	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:78010777C>T	ENST00000435339.2	+	2	816	c.411C>T	c.(409-411)ttC>ttT	p.F137F	LPAR4_ENST00000373301.2_Silent_p.F137F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	137						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						TGGATCGTTTCCTGGCCATTG	0.483000													56	87					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739682	71739682	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71739682G>A	ENST00000318442.5	-	5	2626	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGAAAAAGAGGGGCCCCGCC	0.498000													41	85					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346832	48346832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48346832G>A	ENST00000319856.4	+	1	361	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATTGTATGAGGGGAGAACCAT	0.448000													49	226					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046085	42046085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:42046085G>A	ENST00000372584.1	-	3	5398	c.4384C>T	c.(4384-4386)Ctt>Ttt	p.L1462F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1462F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1462F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1462F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1462					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCAGCTCAAGTTTTTCATCT	0.527000													44	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639648	179639648	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179639648C>T	ENST00000589042.1	-	29	7014	c.6790_splice	c.e29+1	p.G2264_splice	TTN_ENST00000342992.6_Splice_Site_p.G2264_splice|TTN_ENST00000591111.1_Splice_Site_p.G2264_splice|TTN_ENST00000359218.5_Splice_Site_p.G2218_splice|TTN_ENST00000360870.5_Splice_Site_p.G2264_splice|TTN_ENST00000342175.6_Splice_Site_p.G2218_splice|TTN_ENST00000460472.2_Splice_Site_p.G2218_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1988	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGAATACCTTCAACAATA	0.358000													23	30					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240237	126240237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126240237C>T	ENST00000394329.3	+	1	2684	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	891	Cadherin 8.				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						TGACAACTCTCCCCATTTCCT	0.473000													9	26					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702161	33702161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33702161C>T	ENST00000253188.3	-	7	1132	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	329					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACCATTGATCCCTCCGAAGGT	0.597000													22	45					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780144	93780144	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:93780144C>A	ENST00000394221.2	-	2	661	c.212G>T	c.(211-213)aGa>aTa	p.R71I	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71I	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	71	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TAAATTAATTCTATCCTTTAA	0.413000													61	90					9.77497e-20	9.97196e-20	1	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961433	51961433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51961433C>T	ENST00000321424.3	-	1	275	c.209G>A	c.(208-210)gGa>gAa	p.G70E	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G70E|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G70E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	70	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGTCTGTCTCCTGCCCGGAA	0.592000													43	62					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26436377	26436377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26436377G>A	ENST00000265944.5	+	23	2690	c.2524G>A	c.(2524-2526)Gga>Aga	p.G842R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	842	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAATGCAAGTGGATTCTTAGC	0.408000													27	67					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034538	52034538	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52034538C>T	ENST00000346477.3	-	2	371	c.303G>A	c.(301-303)agG>agA	p.R101R	SIGLEC6_ENST00000436458.1_Silent_p.R65R|SIGLEC6_ENST00000343300.4_Silent_p.R101R|SIGLEC6_ENST00000391797.3_Silent_p.R101R|SIGLEC6_ENST00000425629.3_Silent_p.R101R|SIGLEC6_ENST00000359982.4_Silent_p.R101R	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	101	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGCAGTTCTTCCTTCTGGGAT	0.537000													26	59					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987974	61987974	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61987974G>A	ENST00000392824.4	-	2	382	c.321C>T	c.(319-321)ccC>ccT	p.P107P	CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TTACTCTTCTGGGAACCTGGC	0.522000													30	44					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129813718	129813718	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129813718G>A	ENST00000338144.3	-	7	762	c.345C>T	c.(343-345)ctC>ctT	p.L115L	ENOX2_ENST00000370935.1_Silent_p.L86L|ENOX2_ENST00000394363.1_Silent_p.L86L|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.L115L	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	115	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CAGGAGGTGGGAGATCTAAGT	0.428000													28	57					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103301848	103301848	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:103301848C>T	ENST00000428762.1	-	12	1575	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	RELN_ENST00000343529.5_Silent_p.G472G|RELN_ENST00000424685.2_Silent_p.G472G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	472					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCTCAGGTTCCCATAACCGG	0.438000													25	63					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26500951	26500951	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26500951G>A	ENST00000543632.1	+	17	2016	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGCAGCAGGGGCCAAGCAGGC	0.706000													7	4					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850733	216850733	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:216850733C>T	ENST00000391890.3	-	4	605	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	ESRRG_ENST00000493603.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366937.1_Missense_Mutation_p.V58I|ESRRG_ENST00000487276.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366940.2_Missense_Mutation_p.V30I|ESRRG_ENST00000361395.2_Missense_Mutation_p.V30I|ESRRG_ENST00000360012.3_Missense_Mutation_p.V30I|ESRRG_ENST00000359162.2_Missense_Mutation_p.V30I|ESRRG_ENST00000366938.2_Missense_Mutation_p.V30I|ESRRG_ENST00000408911.3_Missense_Mutation_p.V53I|ESRRG_ENST00000463665.1_Missense_Mutation_p.V30I|ESRRG_ENST00000361525.3_Missense_Mutation_p.V30I|ESRRG_ENST00000493748.1_Missense_Mutation_p.V30I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	53					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGGTGGTTGACGCTGTCCGTC	0.547000													4	56					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72691918	72691918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72691918G>A	ENST00000469092.1	-	6	835	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.H232Y|CD300LF_ENST00000326165.6_Silent_p.T221T|CD300LF_ENST00000464910.1_Silent_p.T224T|CD300LF_ENST00000301573.9_Missense_Mutation_p.H237Y|CD300LF_ENST00000583937.1_Silent_p.T236T|CD300LF_ENST00000361254.4_Missense_Mutation_p.H232Y|CD300LF_ENST00000343125.4_Missense_Mutation_p.H187Y			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	0						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAAGCTTCGTGGTAGCCTTTT	0.632000													21	32					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406700	75406700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:75406700G>A	ENST00000394810.2	-	4	2859	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P680S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	904	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AGCACAGTGGGAGCCAGGGGT	0.642000													26	48					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509197	106509197	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106509197G>T	ENST00000359195.3	+	2	1501	c.1191G>T	c.(1189-1191)agG>agT	p.R397S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	397					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTTGCCAAAGGAGAACCAGCC	0.507000													28	36					1.75199e-13	1.77698e-13	1	1	0
RASGRP3	25780	broad.mit.edu	37	2	33768606	33768606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33768606C>T	ENST00000403687.3	+	13	2046	c.1306C>T	c.(1306-1308)Cat>Tat	p.H436Y	RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.H436Y|RASGRP3_ENST00000407811.1_Missense_Mutation_p.H435Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	436	EF-hand 1.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGATCACGACCATGATGGGTA	0.368000													3	15					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63486458	63486458	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:63486458T>A	ENST00000377819.5	+	3	638	c.484T>A	c.(484-486)Ttc>Atc	p.F162I	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.F143I|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.F50I	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	162					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCAGCCAGTTTCCCAGAGCA	0.458000													30	38					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461819	66461819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461819C>T	ENST00000404260.3	+	29	7129	c.6821C>T	c.(6820-6822)cCc>cTc	p.P2274L	MAST4_ENST00000261569.7_Missense_Mutation_p.P2077L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2271L|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092L|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAAGGTGGGCCCTCTGTCCCA	0.627000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	30					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680634	137680634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137680634C>T	ENST00000239906.5	+	4	685	c.257C>T	c.(256-258)tCc>tTc	p.S86F	FAM53C_ENST00000434981.2_Missense_Mutation_p.S86F|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	86										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGGGGAAACTCCCCCAAGGAG	0.622000													43	61					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53453557	53453557	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53453557G>A	ENST00000314250.6	+	18	2422	c.2132G>A	c.(2131-2133)aGg>aAg	p.R711K	TENC1_ENST00000451358.1_Missense_Mutation_p.R701K|TENC1_ENST00000552570.1_Missense_Mutation_p.R711K|TENC1_ENST00000314276.3_Missense_Mutation_p.R721K|TENC1_ENST00000546602.1_Missense_Mutation_p.R711K|TENC1_ENST00000379902.3_Missense_Mutation_p.R587K|TENC1_ENST00000549700.1_Missense_Mutation_p.R711K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	711					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGCTGGAGAGGGAGGCTGGA	0.662000													14	25					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838567	17838567	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17838567C>T	ENST00000324096.4	+	5	2525	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	MAP1S_ENST00000544059.2_Missense_Mutation_p.P766S|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	792	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				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						CGAGTCCCTGCCCACCCTGTC	0.687000													7	7					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407185	38407185	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:38407185T>A	ENST00000322350.5	+	8	1430	c.1084T>A	c.(1084-1086)Tac>Aac	p.Y362N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y128N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y362N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	362	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCAATGACTACACCTGGGG	0.537000													28	37					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128348886	128348886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128348886T>A	ENST00000296255.3	-	5	992	c.944A>T	c.(943-945)gAa>gTa	p.E315V	RPN1_ENST00000497289.1_Missense_Mutation_p.E143V	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	315					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGGCCGGATTTCCATCTCTAC	0.493000			T	EVI1	AML								16	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644006	179644006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179644006C>T	ENST00000589042.1	-	23	4137	c.3913G>A	c.(3913-3915)Ggg>Agg	p.G1305R	TTN_ENST00000342992.6_Missense_Mutation_p.G1305R|TTN_ENST00000591111.1_Missense_Mutation_p.G1305R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G1259R|TTN_ENST00000360870.5_Missense_Mutation_p.G1305R|TTN_ENST00000342175.6_Missense_Mutation_p.G1259R|TTN_ENST00000460472.2_Missense_Mutation_p.G1259R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1305	Ig-like 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCCATCCCCTCAAGAATT	0.348000													17	49					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38072052	38072052	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:38072052G>A	ENST00000290399.6	+	1	619	c.6G>A	c.(4-6)aaG>aaA	p.K2K	AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Silent_p.K2K	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	2					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCGCGATGAAGGAGAAGTCCA	0.672000													14	3					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540565	133540565	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133540565G>A	ENST00000409261.1	-	14	4192	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1273A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1273							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTGGCTGCGGGCTTTGGCGC	0.532000													39	66					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72958801	72958801	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72958801T>G	ENST00000262209.4	-	17	2215	c.2008A>C	c.(2008-2010)Acc>Ccc	p.T670P	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	670						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTTTTTTTGGTGAATTCTAAT	0.294000													29	42					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958432	90958432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:90958432G>A	ENST00000265433.3	-	13	2160	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	NBN_ENST00000409330.1_Missense_Mutation_p.S587F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGATTTCTGGAAGTAGAGTT	0.328000								Homologous recombination					20	54					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55818703	55818703	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:55818703T>C	ENST00000313833.4	+	2	1840	c.1595T>C	c.(1594-1596)gTa>gCa	p.V532A	FBXO34_ENST00000440021.1_Missense_Mutation_p.V532A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	532										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCCATTTGTACTGCCAGCC	0.498000													54	91					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155251019	155251019	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:155251019G>A	ENST00000297375.4	+	0	196					NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGCCGAAGGCTGATTTGGA	0.701000													6	8					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799987	119799987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:119799987G>A	ENST00000355624.3	-	2	882	c.443C>T	c.(442-444)aCc>aTc	p.T148I	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.T148I	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	148					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CATACTTGCGGTCATATTGTT	0.333000													19	32					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26964946	26964946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26964946C>T	ENST00000528896.2	-	14	1753	c.1679G>A	c.(1678-1680)aGg>aAg	p.R560K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R417K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R417K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	560						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGAAGAGTGCCTAGAGACAGC	0.478000													21	28					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55803323	55803323	+	Silent	SNP	C	C	T	rs139592459	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:55803323C>T	ENST00000395863.3	-	2	1078	c.573G>A	c.(571-573)cgG>cgA	p.R191R	BMP7_ENST00000450594.2_Silent_p.R191R|BMP7_ENST00000395864.3_Silent_p.R191R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	191					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AAACGCTGATCCGGAACGTCT	0.552000													64	113					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932306	23932306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932306G>A	ENST00000331837.4	-	1	144	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	20					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GTGCACCTCGGAGTTGGGGGC	0.667000									Prader-Willi syndrome				14	10					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42017192	42017192	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:42017192G>A	ENST00000395925.3	-	12	1861	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	593					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTTTGGCGCGATCAGAGGCA	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	33					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657938	657938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:657938C>T	ENST00000255622.6	+	17	2100	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	PDE6B_ENST00000496514.1_Missense_Mutation_p.S686F|PDE6B_ENST00000429163.2_Missense_Mutation_p.S407F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	686					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTGGATGAGTCCAAGAACTAC	0.617000													32	34					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942412	77942412	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77942412G>A	ENST00000393684.3	-	8	1369	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ISM2_ENST00000429906.1_Silent_p.F333F|ISM2_ENST00000342219.4_Silent_p.F414F|ISM2_ENST00000412904.1_Silent_p.F333F|ISM2_ENST00000493585.1_3'UTR			Q6H9L7	ISM2_HUMAN	isthmin 2	414						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACTTGATTAGGAAGTCGCTCT	0.602000													30	41					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8398529	8398529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8398529C>T	ENST00000360416.3	-	31	4120	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1313K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1318K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1297K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1297					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTGCTTCTTCCAGAAGGGTG	0.423000													22	43					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22237280	22237280	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22237280C>T	ENST00000390428.3	+	0	364																											TCACAGCCTCCCAGCCTGCAG	0.463000													58	129					0	0	1	0	0
C16orf3	750	broad.mit.edu	37	16	90095716	90095716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90095716G>A	ENST00000408886.2	-	1	593	c.35C>T	c.(34-36)cCa>cTa	p.P12L	GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	12										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		ggggtgacctggagactcctg	0.582000													24	43					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46755991	46755991	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46755991C>T	ENST00000460241.1	-	9	2141	c.470_splice	c.e9-1	p.W157_splice	PRSS50_ENST00000315170.7_Splice_Site_p.W157_splice			Q9UI38	TSP50_HUMAN	protease, serine, 50	157	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TAACATCACGCCTAGGGGGGC	0.637000													6	6					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23848308	23848308	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23848308G>A	ENST00000359320.3	+	3	792	c.348G>A	c.(346-348)cgG>cgA	p.R116R	CMTM5_ENST00000555731.1_Silent_p.R78R|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Silent_p.R183R|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Silent_p.R65R	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	183	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TGACCTCCCGGGACGGAGCTG	0.582000													8	22					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234871983	234871983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234871983C>T	ENST00000324695.4	+	13	1751	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	TRPM8_ENST00000433712.2_Nonsense_Mutation_p.Q259*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	571						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)	GGCCATTCTTCAGAATAAGAA	0.463000													18	9					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782412	107782412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:107782412G>A	ENST00000311955.3	-	1	61	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	3					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTTCGCCCGGAGCCATGCTG	0.592000													10	38					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740700	3740700	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3740700C>T	ENST00000541714.2	+	14	2244	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	TJP3_ENST00000262968.9_Silent_p.D627D|TJP3_ENST00000589378.1_Silent_p.D603D|TJP3_ENST00000539908.2_Silent_p.D558D|TJP3_ENST00000587686.1_Silent_p.D613D|TJP3_ENST00000382008.3_Silent_p.D608D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	608	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGAGGACCTCTCAGCTC	0.701000													6	4					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000703	11000703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11000703C>T	ENST00000324288.8	+	11	1487	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	452	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTTCTCTGTCCCCTGCCATTG	0.632000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								44	77					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45132948	45132948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:45132948G>A	ENST00000403581.1	+	10	1666	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.E330K|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCAGCCCCCTGAGCAGGGCTT	0.711000													16	28					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31194585	31194585	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:31194585C>T	ENST00000373765.4	-	2	143	c.108G>A	c.(106-108)cgG>cgA	p.R36R	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	36	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCGCGTCCGGCAGAGAT	0.577000													12	35					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51720722	51720722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51720722G>A	ENST00000371117.3	-	49	8155	c.7880C>T	c.(7879-7881)tCt>tTt	p.S2627F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2627F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2627					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGGTTCTCAGATTGCAATGA	0.408000													17	80					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073652	73073652	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73073652C>T	ENST00000263674.3	+	14	5219	c.4869C>T	c.(4867-4869)ctC>ctT	p.L1623L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1623					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGCCGGGCCTCGGCGAGGGTG	0.701000													16	15					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946583	150946583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150946583G>A	ENST00000261800.5	-	1	1922	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	637	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTTCAGGGAATAACTGGT	0.413000													38	59					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55317918	55317918	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55317918G>A	ENST00000371269.3	-	9	1637	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	DHCR24_ENST00000535035.1_Silent_p.A472A|DHCR24_ENST00000537443.1_Silent_p.A297A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	513					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						AGTGCCTGGCGGCCTTGCAGA	0.572000													28	23					0	0	1	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356114	22356114	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22356114C>T	ENST00000390437.2	+	0	78																											AAATTTGAATCCTCAGTGAAC	0.348000													7	12					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57333096G>A	ENST00000326441.9	-	7	955	c.592C>T	c.(592-594)Cct>Tct	p.P198S	PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	198					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537000													54	92					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036477	32036477	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32036477C>T	ENST00000375244.3	-	17	6111	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E	TNXB_ENST00000375247.2_Silent_p.E1970E			P22105	TENX_HUMAN	tenascin XB	2052	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCTCCTCCTCCGGGACTG	0.632000													27	19					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63959550	63959550	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:63959550G>A	ENST00000373789.3	-	11	1353	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	RTKN2_ENST00000315289.2_Silent_p.F221F|RTKN2_ENST00000395265.1_Silent_p.F440F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	419					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTTTGTCAAGAACAAAGGTG	0.398000													23	41					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113666513	113666513	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:113666513C>T	ENST00000361127.4	+	18	3186	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	996						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCAGCGGCCCGTGTGGAACA	0.433000													11	13					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48841725	48841725	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48841725C>T	ENST00000376423.4	-	13	1005	c.973G>A	c.(973-975)Gag>Aag	p.E325K	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E347K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E378K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E333K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	378						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATAAGGTCCTCGTACTCAGCC	0.532000													22	28					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002804	20002804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002804C>T	ENST00000589717.1	+	4	840	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	ZNF253_ENST00000355650.4_Missense_Mutation_p.H174Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	250				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGAAAATTCATACTGGAGA	0.403000													23	32					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141236840	141236840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141236840C>T	ENST00000287008.3	-	4	3443	c.3296G>A	c.(3295-3297)gGa>gAa	p.G1099E	PCDH1_ENST00000503492.1_Missense_Mutation_p.G367E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCATCTCTCCTATGCTGCC	0.597000													22	25					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16383004	16383004	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16383004G>A	ENST00000375679.4	+	19	2127		c.e19+1		CLCNKB_ENST00000375667.3_Splice_Site	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGTGGAGGTACCAGGGTC	0.627000											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	64					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507891	39507891	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:39507891G>A	ENST00000287152.7	-	13	1627	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	KIF6_ENST00000373213.4_Silent_p.F350F|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Silent_p.F511F|KIF6_ENST00000373216.3_Silent_p.F511F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	511					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCCTAGGCGGAAGGGTGGGC	0.498000													9	124					0	0	1	0	0
FAM174B	400451	broad.mit.edu	37	15	93162622	93162622	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:93162622C>T	ENST00000555748.1	-	3	473	c.120G>A	c.(118-120)aaG>aaA	p.K40K	FAM174B_ENST00000555696.1_Silent_p.K40K|FAM174B_ENST00000553393.1_Intron|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000555064.1_Silent_p.K40K|FAM174B_ENST00000327355.5_3'UTR			Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	0						integral to membrane				endometrium(2)|lung(1)	3						AGGTCCAGTCCTTCACACCCC	0.522000													12	16					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529521	234529521	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:234529521G>A	ENST00000040877.1	-	27	4305	c.4306C>T	c.(4306-4308)Ccg>Tcg	p.P1436S	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1436					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGTTCCACGGGATAATCTTC	0.458000													29	39					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197021263	197021263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:197021263G>A	ENST00000263955.4	-	3	521	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	STK17B_ENST00000409228.1_Missense_Mutation_p.H79Y	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	79	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GCAATCTCGTGTAAAATTTCT	0.348000													33	47					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766219	27766219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:27766219G>A	ENST00000451261.2	+	5	1606	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGATAAGAAAGAAAACAATGG	0.413000													26	26					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105775945	105775945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:105775945G>A	ENST00000393127.2	+	9	1522	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	GRIA4_ENST00000282499.5_Missense_Mutation_p.G359E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G359E|GRIA4_ENST00000428631.2_Missense_Mutation_p.G359E|GRIA4_ENST00000393125.2_Missense_Mutation_p.G359E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G359E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	359					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGGCTGACAGGGAATGTTCAG	0.408000													18	37					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47780630	47780630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:47780630C>T	ENST00000240333.6	-	7	803	c.682G>A	c.(682-684)Gag>Aag	p.E228K	SLC35B1_ENST00000415270.2_Missense_Mutation_p.E265K			P78383	S35B1_HUMAN	solute carrier family 35, member B1	228						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CTCAAGAACTCCCAGAGCTCC	0.502000													26	40					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:206531C>T	ENST00000356347.3	+	0	133					NR_027481.1																						TTGGATGATTCGTAGCTAAGA	0.632000													9	19					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497933	20497933	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20497933G>A	ENST00000573854.1	+	14	1781	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E	ACSM2A_ENST00000417235.2_Missense_Mutation_p.G477E|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G328E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G556E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G556E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G556E	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	556					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACTGTCACAGGGAAAATTCAA	0.478000													56	94					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41865994	41865994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41865994C>T	ENST00000263798.3	+	18	2487	c.2263C>T	c.(2263-2265)Ccg>Tcg	p.P755S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P710S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	755	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAAACAGCCTCCGGAGTGTAT	0.547000													40	75					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15374332	15374332	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15374332C>T	ENST00000263377.2	-	7	1461	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	BRD4_ENST00000371835.4_Missense_Mutation_p.D414N|BRD4_ENST00000360016.5_Missense_Mutation_p.D414N|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	414	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCTGAGCATCACGGTACTCA	0.542000			T	C15orf55	lethal midline carcinoma of young people								22	34					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28900804	28900804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28900804C>T	ENST00000375664.3	+	10	1864	c.1255C>T	c.(1255-1257)Cct>Tct	p.P419S	WAC_ENST00000347934.4_Missense_Mutation_p.P361S|WAC_ENST00000375646.1_Missense_Mutation_p.P312S|WAC_ENST00000354911.4_Missense_Mutation_p.P464S			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	464					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAACACAGTCCCTATCAAACC	0.418000													45	65					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45530194	45530194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45530194C>T	ENST00000415258.1	+	11	1270	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	LARS2_ENST00000414984.1_Missense_Mutation_p.P334S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P377S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	377					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AATAGGAATTCCCAGTACTAG	0.458000													21	45					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802341	27802341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27802341G>A	ENST00000408964.2	+	1	2953	c.2902G>A	c.(2902-2904)Ggt>Agt	p.G968S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	968										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTTTATCATGGTCATAAGAA	0.413000													18	49					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221768	62221768	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62221768G>A	ENST00000266068.1	-	9	1745	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	GMEB2_ENST00000370077.1_Missense_Mutation_p.P423S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	423					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGGGAGGCCGGGGAGCTGGCG	0.692000													5	11					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417793	138417793	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138417793C>T	ENST00000310018.2	-	17	2019	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	ATP6V0A4_ENST00000393054.1_Silent_p.E579E|ATP6V0A4_ENST00000353492.4_Silent_p.E579E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	579					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAAAAATCATCTCAGGGATAA	0.433000													25	60					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012590	16012590	+	Missense_Mutation	SNP	C	C	T	rs41440349	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:16012590C>T	ENST00000350896.3	-	6	1078	c.881G>A	c.(880-882)gGa>gAa	p.G294E	MSR1_ENST00000445506.2_Missense_Mutation_p.G312E|MSR1_ENST00000262101.5_Missense_Mutation_p.G294E|MSR1_ENST00000536385.1_Missense_Mutation_p.G68E|MSR1_ENST00000355282.2_Missense_Mutation_p.G294E|MSR1_ENST00000381998.4_Missense_Mutation_p.G294E	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	294	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACCTGGAAATCCTCGTGGACC	0.408000													16	31					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:10934997C>T	ENST00000298232.7	-	14	1109	c.741_splice	c.e14-1	p.E248_splice	TPTE_ENST00000361285.4_Splice_Site_p.E266_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333000													25	55					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151202405	151202405	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:151202405G>A	ENST00000274576.4	-	9	1471	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	GLRA1_ENST00000455880.2_Silent_p.P401P|GLRA1_ENST00000545569.1_Silent_p.P310P	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	401					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGCAGGAGGGGGGTTGGTGG	0.552000													43	68					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133565	153133565	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133565C>T	ENST00000370060.1	-	15	1905	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	L1CAM_ENST00000370055.1_Silent_p.E567E|L1CAM_ENST00000543994.1_Silent_p.E574E|L1CAM_ENST00000361981.3_Silent_p.E567E|L1CAM_ENST00000538883.1_Silent_p.E574E|L1CAM_ENST00000370057.3_Silent_p.E572E|L1CAM_ENST00000361699.4_Silent_p.E572E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	572	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCCATCCTCTATGAAGT	0.617000													22	37					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722486	64722486	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:64722486A>T	ENST00000338957.4	+	5	1975	c.1908A>T	c.(1906-1908)ttA>ttT	p.L636F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L625F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	625							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAAGCCTTAACACGAGTGC	0.532000													15	20					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771258	99771258	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:99771258G>A	ENST00000370185.3	+	7	1481	c.984G>A	c.(982-984)ggG>ggA	p.G328G	LPPR4_ENST00000457765.1_Silent_p.G270G|LPPR4_ENST00000370184.1_Silent_p.G170G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		328							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCTGTGGGGAATTTCCTGC	0.443000													32	38					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67694198G>T	ENST00000219251.8	-	1	515	c.184C>A	c.(184-186)Ctt>Att	p.L62I	ACD_ENST00000393919.4_Missense_Mutation_p.L62I	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736000													15	19					9.16793e-09	9.23705e-09	1	1	0
TENM1	10178	broad.mit.edu	37	X	123630900	123630900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123630900G>A	ENST00000422452.2	-	20	3724	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTCCCGAGGGAAATATTCTC	0.398000													48	61					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37688398	37688398	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37688398C>T	ENST00000315215.7	+	7	1252	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	GPR124_ENST00000412232.2_Missense_Mutation_p.L297F			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	297	Ig-like.				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	p.L290F(1)		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)			GGCGGGCATCCTCCTGGCCGA	0.647000													6	5					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123946878	123946878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:123946878C>T	ENST00000360013.3	+	2	236	c.109C>T	c.(109-111)Cct>Tct	p.P37S	KALRN_ENST00000240874.3_Missense_Mutation_p.P37S|KALRN_ENST00000460856.1_Missense_Mutation_p.P37S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	37	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGATGTCCTTCCTATCCTAAA	0.468000													65	101					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3117072	3117072	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:3117072C>T	ENST00000355072.5	+	7	934	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	263					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTCAAGCTCCCCCACCATTC	0.453000													24	18					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777985	237777985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237777985G>A	ENST00000366574.2	+	37	5874	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1851K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1837K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1853	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E1851K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTAAAGAAGCTGCCAC	0.517000													12	28					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552622	69552622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:69552622G>A	ENST00000337103.4	+	7	2376	c.784G>A	c.(784-786)Gat>Aat	p.D262N	C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	287					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)			GGATCTTAATGATTTAAGAAT	0.398000													17	21					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548246	165548246	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:165548246C>T	ENST00000264381.3	-	2	742	c.576G>A	c.(574-576)ggG>ggA	p.G192G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	192					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AACCCATGTTCCCTGGAGCCT	0.428000													28	49					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564449	33564449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:33564449C>T	ENST00000321505.4	+	1	629	c.449C>T	c.(448-450)cCg>cTg	p.P150L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P150L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P150L					KIAA1549-like																		TCTGCTAACCCGCTGCATTTG	0.537000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	61					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70589476	70589476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70589476C>T	ENST00000322773.4	+	2	119	c.17C>T	c.(16-18)cCt>cTt	p.P6L	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	6					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTCACTGGCCCTTGGAAACTT	0.433000													5	47					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133041229	133041229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:133041229G>C	ENST00000253861.4	+	6	938	c.909G>C	c.(907-909)ttG>ttC	p.L303F	EXOC4_ENST00000539845.1_Missense_Mutation_p.L202F|EXOC4_ENST00000393161.2_Missense_Mutation_p.L303F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	303					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TAGAGCGCTTGGAGCAGGAGT	0.493000													24	36					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296670	153296670	+	Missense_Mutation	SNP	C	C	T	rs61749722		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153296670C>T	ENST00000407218.1	-	5	685	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MECP2_ENST00000303391.6_Silent_p.T203T|MECP2_ENST00000453960.2_Silent_p.T215T			P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	82			R -> W (in MRXS13).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCTCTGACGTGGCCGCCT	0.597000													118	174					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122104659	122104659	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:122104659G>A	ENST00000263710.4	-	39	4874	c.4485C>T	c.(4483-4485)atC>atT	p.I1495I	CLASP1_ENST00000397587.3_Silent_p.I1435I|CLASP1_ENST00000541377.1_Silent_p.I1434I|CLASP1_ENST00000545861.1_Silent_p.I1202I|CLASP1_ENST00000409078.3_Silent_p.I1428I|CLASP1_ENST00000541859.1_Silent_p.I1212I|CLASP1_ENST00000455322.2_Silent_p.I1451I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1495	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGTCTTCTCCGATTACGGAAT	0.502000													3	7					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17163629	17163629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17163629G>A	ENST00000539941.2	-	8	1070	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	COPS3_ENST00000268717.5_Nonsense_Mutation_p.Q308*|COPS3_ENST00000439936.2_Intron	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	308	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GTTAGCCTCTGAATATTCTTC	0.493000													38	58					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32824950	32824950	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:32824950C>T	ENST00000421745.2	+	70	14109	c.13975C>T	c.(13975-13977)Ctt>Ttt	p.L4659F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4659	Ubiquitin-conjugating.				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)					CAATCCAAACCTTTATAATGA	0.333000													14	13					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697683	113697683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113697683G>A	ENST00000297405.5	-	15	2678	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	812	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCAGCCTGAAATTCCAAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	42					0	0	1	0	0
C10orf25	220979	broad.mit.edu	37	10	45495857	45495857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:45495857G>A	ENST00000298298.1	-	2	366	c.338C>T	c.(337-339)cCt>cTt	p.P113L		NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	113						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						GGATGGCTGAGGAGGAGCCTG	0.512000													7	14					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52847412	52847412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:52847412G>A	ENST00000371568.3	-	14	2253	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	ORC1_ENST00000371566.1_Nonsense_Mutation_p.Q679*	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	679	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTATAGGGCTGGAAGCACATC	0.527000													29	39					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716264	8716264	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8716264C>T	ENST00000337907.3	-	3	727	c.93G>A	c.(91-93)gaG>gaA	p.E31E	RERE_ENST00000400907.2_Silent_p.E31E|RERE_ENST00000400908.2_Silent_p.E31E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	31					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AATTCTCACTCTCTCTTGCTT	0.493000													100	81					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17030484	17030484	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17030484G>A	ENST00000492551.1	-	0	851					NR_026567.1																						TGGAGGAGCAGGAGTCGTAGT	0.622000													6	82					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749050	79749050	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:79749050C>T	ENST00000305428.3	+	2	636	c.561C>T	c.(559-561)aaC>aaT	p.N187N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	187						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGGTGAAAAACCGCGCCGCTT	0.577000													17	37					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171881	207171881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:207171881C>T	ENST00000374423.3	+	5	3015	c.2629C>T	c.(2629-2631)Cat>Tat	p.H877Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	877							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGGATTCCCATGCCCCTCT	0.378000													18	48					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640145	57640145	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57640145G>A	ENST00000254181.4	+	4	556	c.102G>A	c.(100-102)aaG>aaA	p.K34K	USP29_ENST00000598197.1_Silent_p.K34K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	34					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGACAAAAGGAAATTAAAC	0.353000													22	30					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890546	55890546	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55890546G>A	ENST00000313472.3	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCACTTCAGGAAAGCAGAAA	0.398000													48	48					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671279	45671279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:45671279C>T	ENST00000308064.2	-	4	1865	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	399					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACCAGGCTGACCGAGGGGTTC	0.662000													24	51					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324489	31324489	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:31324489C>T	ENST00000269197.5	+	12	4677	c.4677C>T	c.(4675-4677)ctC>ctT	p.L1559L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCACAAGTCTCCGAGAATTAC	0.483000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47462202	47462202	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47462202C>T	ENST00000265565.5	-	12	1817	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.G214R|SCAP_ENST00000545718.1_Missense_Mutation_p.G77R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	469					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)		GTTGGCTGTCCCACTGGCTTG	0.652000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	40					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17771378	17771378	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:17771378G>A	ENST00000380043.3	+	7	1103	c.774_splice	c.e7-1	p.E259_splice	SCML1_ENST00000398080.1_Splice_Site_p.E165_splice|SCML1_ENST00000380045.3_Splice_Site_p.E165_splice|SCML1_ENST00000380041.3_Splice_Site_p.E286_splice	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	286	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTCTCCATAGGAAATTGACGG	0.423000													45	56					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37107724	37107724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:37107724G>A	ENST00000274258.7	-	52	9855	c.6268C>T	c.(6268-6270)Cac>Tac	p.H2090Y	C5orf42_ENST00000508244.1_Missense_Mutation_p.H3192Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.H3192Y			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3192										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGGCCCAGTGGACAGACAGG	0.552000													4	22					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389615	48389615	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389615G>A	ENST00000224600.4	-	1	1376	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	421	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCTTGCCGGATAGCCTCGT	0.637000													21	40					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715439	165715439	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165715439C>T	ENST00000543069.1	-	2	641	c.60G>A	c.(58-60)caG>caA	p.Q20Q	C6orf118_ENST00000230301.8_Silent_p.Q124Q			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	124										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGGGGTGTCCTGGGCCTCAC	0.637000													43	24					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123448163	123448163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123448163G>A	ENST00000529750.1	+	2	439	c.112G>A	c.(112-114)Gga>Aga	p.G38R	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G38R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G38R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	38						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAACCAGGACGGAGACACCAT	0.682000											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	10					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830308	4830308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:4830308G>A	ENST00000348624.4	+	16	2037	c.1943G>A	c.(1942-1944)tGg>tAg	p.W648*	AP5Z1_ENST00000490487.1_Intron	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	648					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GCCTAGGTGTGGGCCATCGGC	0.647000													19	13					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:81110921G>A	ENST00000228644.3	+	1	231	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000													19	32					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430364	10430364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10430364G>A	ENST00000245503.5	-	29	4265	c.3881C>T	c.(3880-3882)tCa>tTa	p.S1294L	MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1294					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGCTGGCGTGAAAACTCACC	0.388000													22	35					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30928163	30928163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30928163G>A	ENST00000597505.1	-	28	4027	c.4028C>T	c.(4027-4029)cCa>cTa	p.P1343L	DCDC1_ENST00000406071.2_Missense_Mutation_p.P78L|DCDC1_ENST00000339794.5_Missense_Mutation_p.P422L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACAGAGGAATGGAACCCCTGG	0.463000													7	29					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24995057	24995057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995057C>T	ENST00000261192.7	-	7	1302	c.776G>A	c.(775-777)gGa>gAa	p.G259E	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	259					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ATTCATAGTTCCCACTTCAGT	0.423000													4	25					0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42940390	42940390	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42940390A>T	ENST00000529687.1	+	9	1540	c.652A>T	c.(652-654)Aca>Tca	p.T218S	FNTA_ENST00000302279.3_Missense_Mutation_p.T369S|FNTA_ENST00000342116.4_Missense_Mutation_p.T302S			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	369					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CAAACACAGCACAGAAAATGA	0.358000													18	31					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621622	118621622	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:118621622G>A	ENST00000354673.2	-	9	1418	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	IGSF11_ENST00000425327.2_Silent_p.F346F|IGSF11_ENST00000393775.2_Silent_p.F347F|IGSF11_ENST00000491903.1_Silent_p.F319F|IGSF11_ENST00000441144.2_Silent_p.F322F|IGSF11_ENST00000489689.1_Silent_p.F323F	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	347					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCTGAGTGGAAAGAGAAAG	0.473000													52	81					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395330	76395330	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:76395330A>C	ENST00000357063.3	+	15	3641	c.2381A>C	c.(2380-2382)aAg>aCg	p.K794T	LMO7_ENST00000341547.4_Missense_Mutation_p.K460T|LMO7_ENST00000465261.2_Missense_Mutation_p.K509T|LMO7_ENST00000321797.8_Missense_Mutation_p.K509T|LMO7_ENST00000526202.1_Missense_Mutation_p.K359T|LMO7_ENST00000377534.3_Missense_Mutation_p.K794T			Q8WWI1	LMO7_HUMAN	LIM domain 7	794						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAAATCAAAAGTCTACAGTT	0.448000													24	29					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47678977	47678977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47678977G>A	ENST00000397708.1	-	17	3864	c.3610C>T	c.(3610-3612)Cgt>Tgt	p.R1204C	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R1204C|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1204					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGGGCCACACGGACCCTCTGG	0.537000													5	85					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044271	94044271	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94044271G>A	ENST00000553484.1	+	18	2449	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	UNC79_ENST00000256339.4_Silent_p.R588R|UNC79_ENST00000555664.1_Silent_p.R765R|UNC79_ENST00000393151.2_Silent_p.R765R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	765						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCCGTTTCGGAGTCCTTTGC	0.448000													55	124					0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713945	42713945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42713945C>A	ENST00000595337.1	-	4	583	c.496G>T	c.(496-498)Ggt>Tgt	p.G166C	DEDD2_ENST00000336034.4_Missense_Mutation_p.G161C|DEDD2_ENST00000598727.1_Missense_Mutation_p.G166C|DEDD2_ENST00000596251.1_Missense_Mutation_p.G166C|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	166					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTGGCACCACCACTGGGCCGG	0.667000													29	51					2.65835e-16	2.70449e-16	1	1	0
PCYT1A	5130	broad.mit.edu	37	3	195997311	195997311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195997311G>A	ENST00000292823.2	-	3	264	c.92C>T	c.(91-93)cCt>cTt	p.P31L	PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.P31L|PCYT1A_ENST00000419333.1_Missense_Mutation_p.P31L	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	31						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)	CACTTTGGAAGGAACCCCATC	0.498000													101	196					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35944661	35944661	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:35944661G>A	ENST00000325722.3	-	4	1053	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	273						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAATCTGGGTTTTCTCAG	0.527000													28	26					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75199690	75199690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:75199690G>A	ENST00000413679.2	+	10	1351	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	SEC14L1_ENST00000430767.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.D350N|SEC14L1_ENST00000436233.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.D316N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.D350N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.D316N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	350	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGGCAGATGGACACCAAAGG	0.582000													6	15					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28826894	28826894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28826894G>A	ENST00000422425.2	+	39	2847	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Missense_Mutation_p.A946T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	946	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCTGGAGGCCTTCAGCCG	0.607000													26	35					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122755258	122755258	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:122755258C>T	ENST00000245838.8	-	31	3997	c.3966G>A	c.(3964-3966)ccG>ccA	p.P1322P	THOC2_ENST00000491737.1_Silent_p.P1207P|THOC2_ENST00000355725.4_Silent_p.P1322P	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1322	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGTCAGACTTCGGCGTTCTTT	0.403000													64	85					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78899198	78899198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78899198G>A	ENST00000306801.3	+	24	3199	c.2837G>A	c.(2836-2838)gGa>gAa	p.G946E	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	946					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GATGCTGCTGGACACAAAAGT	0.582000													18	32					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274541	35274541	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:35274541G>A	ENST00000356321.4	-	3	1439	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AATTTCTCAAGAAACTCTTTT	0.328000													6	17					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535443	27535443	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:27535443C>T	ENST00000574842.1	+	0	255																											GACTTCTGCTCTTTCTGTTCA	0.423000													34	44					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75513015	75513015	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75513015G>A	ENST00000318622.4	+	4	792		c.e4-1		RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Splice_Site|RHBDD2_ENST00000006777.6_Splice_Site	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCCAACCTCAGATGGCCTCAC	0.557000													101	72					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122630711	122630711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:122630711C>T	ENST00000263461.6	+	10	1570	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	442						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAACATCCCAGAGGTTC	0.423000													18	22					0	0	1	0	0
C4orf29	80167	broad.mit.edu	37	4	128951758	128951758	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128951758C>T	ENST00000388795.5	+	12	1431	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	C4orf29_ENST00000444616.1_Missense_Mutation_p.P391L|C4orf29_ENST00000398965.1_Missense_Mutation_p.P391L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	391						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAAATTTGGCCTGGTTGTGAA	0.408000													8	41					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65346399	65346399	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65346399G>A	ENST00000356126.3	-	4	458	c.351C>T	c.(349-351)gaC>gaT	p.D117D	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Silent_p.D97D	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TGATAGGAAGGTCTGTGATTT	0.333000													13	24					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907313	7907313	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7907313C>T	ENST00000254854.4	+	3	1015	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	289					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GTCCCCAGGCCCGGAGGCCTT	0.682000													89	29					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73958353	73958353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73958353C>T	ENST00000276602.6	+	9	1264	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	TERF1_ENST00000276603.5_Missense_Mutation_p.S434F	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	434	HTH myb-type.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAACTGATTTCCTCAGACAGC	0.353000													17	45					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563390	219563390	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219563390C>T	ENST00000295709.3	+	26	3402	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A	STK36_ENST00000392105.3_Silent_p.A1020A|STK36_ENST00000392106.2_Silent_p.A1020A|STK36_ENST00000440309.1_Silent_p.A1041A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1041					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CACGCCTGGCCCTCATGGATC	0.547000													84	33					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39647066	39647066	+	Missense_Mutation	SNP	G	G	T	rs1138657		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:39647066G>T	ENST00000216832.4	+	6	511	c.444G>T	c.(442-444)ttG>ttT	p.L148F	PNN_ENST00000553331.1_Missense_Mutation_p.V117F	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	148	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATTTGGCTTGTTGATGGGTA	0.318000													113	195					2.68169e-52	2.74748e-52	1	1	0
COL9A3	1299	broad.mit.edu	37	20	61468563	61468563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61468563G>A	ENST00000343916.3	+	30	1735	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	578	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGGCGCTCGAGGACCCCCTGG	0.677000													33	56					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198464	20198464	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:20198464G>T	ENST00000400331.5	-	5	1828	c.1520C>A	c.(1519-1521)cCa>cAa	p.P507Q	MACC1_ENST00000332878.4_Missense_Mutation_p.P507Q|MACC1_ENST00000589011.1_Missense_Mutation_p.P507Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	507					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTTGGGGTTGGATCAGGAGT	0.413000													42	84					3.77016e-25	3.85438e-25	1	1	0
KIF1A	547	broad.mit.edu	37	2	241710442	241710442	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241710442G>A	ENST00000498729.2	-	15	1533	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	KIF1A_ENST00000320389.7_Silent_p.L420L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	420					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGCGCTCGTGGAGGCTGGACA	0.647000													26	13					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71736621	71736621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:71736621T>C	ENST00000393524.2	-	2	1031	c.298A>G	c.(298-300)Act>Gct	p.T100A	PHLPP2_ENST00000567016.1_Missense_Mutation_p.T135A|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T100A|PHLPP2_ENST00000568954.1_Missense_Mutation_p.T100A|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T100A			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	100						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGTCGTTCAGTAGGTTCCAGT	0.343000													23	46					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1157576	1157576	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1157576C>T	ENST00000356191.2	+	12	747	c.747C>T	c.(745-747)tcC>tcT	p.S249S						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGACCCTGTCCCTGAACCCCC	0.622000													11	17					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227500	38227500	+	Missense_Mutation	SNP	G	G	A	rs45567442		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:38227500G>A	ENST00000373048.4	-	3	426	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R143C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	143						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCTAGGCGGGGACGCCCA	0.657000													18	57					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370632	86370632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86370632C>T	ENST00000400286.2	-	2	610	c.12G>A	c.(10-12)tgG>tgA	p.W4*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	4						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAGATGAATCCACAGCTTCA	0.423000													18	34					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206395	71206395	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:71206395C>T	ENST00000272421.6	+	2	605	c.339C>T	c.(337-339)ttC>ttT	p.F113F	ANKRD53_ENST00000441349.1_Silent_p.F79F|ANKRD53_ENST00000360589.3_Silent_p.F113F|ANKRD53_ENST00000457410.1_Silent_p.F79F|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	113										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						ACCAGCTGTTCGCAGCGGCTG	0.637000													53	68					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747966	148747966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148747966C>T	ENST00000514349.1	+	5	1543	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R412C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	412					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCTGTTCCGTTCCTATTA	0.607000													54	82					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77258710	77258710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77258710G>A	ENST00000341514.6	+	6	1839	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	ATP7A_ENST00000343533.5_Missense_Mutation_p.G562R|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	562					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGCTGATGAAGGAGATGGTGT	0.368000													86	109					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918276	111918276	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111918276C>T	ENST00000305815.5	-	20	2667	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	SLC9C1_ENST00000487372.1_Silent_p.V757V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	805					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCTTTGTTTTCACAGTGACAG	0.289000													17	29					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596795	48596795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48596795G>A	ENST00000310248.2	-	1	375	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ACATACAAAGGAGACAATGTG	0.498000													15	19					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153586662	153586662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153586662C>T	ENST00000422373.1	-	28	4908	c.4660G>A	c.(4660-4662)Ggg>Agg	p.G1554R	FLNA_ENST00000369850.3_Missense_Mutation_p.G1554R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1554R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1554R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1554	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GTGTTGAGCCCGGGGCCACTG	0.617000													18	31					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675713	21675713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21675713G>A	ENST00000379499.2	-	1	735	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	65	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGCGCCCGGGATTCCTGGGT	0.642000													12	14					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38793756	38793756	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38793756C>T	ENST00000348513.6	-	5	1005	c.225G>A	c.(223-225)agG>agA	p.R75R	SMARCE1_ENST00000544009.1_Silent_p.R5R|SMARCE1_ENST00000580419.1_Silent_p.R40R|SMARCE1_ENST00000578044.1_Silent_p.R5R|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000400122.3_Silent_p.R5R|SMARCE1_ENST00000377808.4_Silent_p.R40R|SMARCE1_ENST00000431889.2_Silent_p.R57R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	75					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TTCTGCTGTACCTCATGTAGG	0.458000													46	61					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822417	72822417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72822417G>A	ENST00000268489.5	-	10	10430	c.9758C>T	c.(9757-9759)cCc>cTc	p.P3253L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2339L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3253					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACAGGCAGGGGTTCCCCTTT	0.582000													67	128					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35836539	35836539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35836539C>T	ENST00000085219.5	+	12	2309	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	CD22_ENST00000536635.2_Missense_Mutation_p.S660F|CD22_ENST00000341773.6_Missense_Mutation_p.S571F|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S576F|CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.S571F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	748					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGCCCCCACTCCCTGGGATGC	0.577000													31	38					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230907	7230907	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7230907C>T	ENST00000379938.2	+	10	3112	c.2575C>T	c.(2575-2577)Ctc>Ttc	p.L859F	RREB1_ENST00000334984.6_Missense_Mutation_p.L859F|RREB1_ENST00000349384.6_Missense_Mutation_p.L859F|RREB1_ENST00000379933.3_Missense_Mutation_p.L859F	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	859					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGCAAGCCCCTCACTGCCTT	0.701000													8	13					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31157262	31157262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31157262G>A	ENST00000268281.4	-	6	626	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S|PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	190	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCACCCAGGGGAGAGGCAGA	0.597000													18	13					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111564747	111564747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111564747C>T	ENST00000393923.3	+	2	287	c.32C>T	c.(31-33)cCc>cTc	p.P11L	PLCXD2_ENST00000393934.3_3'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAGAGGTGCCCAAGGAAGAT	0.433000													33	52					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105395239	105395239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105395239C>A	ENST00000540372.1	+	4	651	c.459C>A	c.(457-459)gaC>gaA	p.D153E	PLD4_ENST00000392593.4_Missense_Mutation_p.D146E			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	146					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CAGGGCCTGACATCGGGGTCA	0.647000													17	37					1.99824e-07	2.01148e-07	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3328624	3328624	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3328624G>A	ENST00000378398.3	+	10	1948	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	PRDM16_ENST00000442529.2_Silent_p.T621T|PRDM16_ENST00000514189.1_Silent_p.T622T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.T622T|PRDM16_ENST00000378391.2_Silent_p.T621T|PRDM16_ENST00000270722.5_Silent_p.T621T|PRDM16_ENST00000441472.2_Silent_p.T621T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	621					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACGGGGACGGGCTCGGACC	0.657000			T	EVI1	"""MDS, AML"""								27	64					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983645	51983645	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51983645C>T	ENST00000396477.4	+	2	132	c.111C>T	c.(109-111)acC>acT	p.T37T	CEACAM18_ENST00000451626.1_Silent_p.T98T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	98						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCACCCAAACCCTGGGGATCA	0.527000													4	10					0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11687925	11687925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:11687925C>T	ENST00000220584.4	+	6	1097	c.875C>T	c.(874-876)cCa>cTa	p.P292L	FDFT1_ENST00000525900.1_Missense_Mutation_p.P285L|FDFT1_ENST00000525777.1_Missense_Mutation_p.P207L|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.P249L|FDFT1_ENST00000538689.1_Missense_Mutation_p.P181L|FDFT1_ENST00000528643.1_Missense_Mutation_p.P207L|FDFT1_ENST00000530664.1_Missense_Mutation_p.P228L|FDFT1_ENST00000528812.1_Missense_Mutation_p.P228L	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	292					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGTGCTATTCCACAGGTAGGG	0.478000													19	54					0	0	1	0	0
GALR3	8484	broad.mit.edu	37	22	38219451	38219451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38219451G>A	ENST00000249041.2	+	1	63	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	13					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GACAGCCCAGGGAGTGTGGGG	0.617000													33	51					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59359174	59359174	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:59359174C>T	ENST00000348370.4	+	6	2011	c.1578C>T	c.(1576-1578)gtC>gtT	p.V526V	RNF111_ENST00000557998.1_Silent_p.V526V|RNF111_ENST00000561186.1_Silent_p.V526V|RNF111_ENST00000559209.1_Silent_p.V526V|RNF111_ENST00000434298.1_Silent_p.V526V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	526					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCCAGCTGTCCCAGTTTCTC	0.488000													36	56					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83829546	83829546	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:83829546C>T	ENST00000349129.2	+	9	1220	c.960C>T	c.(958-960)ttC>ttT	p.F320F	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.F311F|DOPEY1_ENST00000237163.5_Silent_p.F311F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	320					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTACTATTTCACTACCTTTT	0.363000													25	21					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199305	155199305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155199305G>A	ENST00000460012.1	-	23	4777	c.4420C>T	c.(4420-4422)Cag>Tag	p.Q1474*	PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q1512*|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1512					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTAATACACTGGTACTTGCTC	0.453000													25	40					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829214	45829214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45829214G>A	ENST00000263736.4	-	3	151	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	30					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTCTTCAGAGGCAGATGATCT	0.398000													23	59					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95592951	95592951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95592951G>A	ENST00000526495.1	-	9	1160	c.869C>T	c.(868-870)tCa>tTa	p.S290L	DICER1_ENST00000343455.3_Missense_Mutation_p.S290L|DICER1_ENST00000527414.1_Missense_Mutation_p.S290L|DICER1_ENST00000393063.1_Missense_Mutation_p.S290L|DICER1_ENST00000541352.1_Missense_Mutation_p.S290L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	290	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTTTCTTTTGAATGTACAGA	0.289000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				33	49					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200384	155200384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155200384G>A	ENST00000460012.1	-	23	3698	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F	PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1152F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1152					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443000													24	40					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47092374	47092374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47092374G>A	ENST00000218348.3	+	1	61	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	21					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAGAATCCGGAAGTGGCTGT	0.612000													25	62					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116562275	116562275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:116562275G>A	ENST00000369503.4	+	3	503	c.373G>A	c.(373-375)Gga>Aga	p.G125R	SLC22A15_ENST00000369502.1_Missense_Mutation_p.G125R	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	125					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTATTTGTTGGAGTTATCTC	0.383000													10	10					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148867169	148867169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:148867169C>T	ENST00000367467.3	+	19	3842	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1123							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTGTGGGATTCCTGAAGCCCT	0.522000													24	19					0	0	1	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072751	90072751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90072751C>T	ENST00000392973.3	-	3	1218	c.487G>A	c.(487-489)Gag>Aag	p.E163K	DBNDD1_ENST00000568838.1_Missense_Mutation_p.E277K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E157K|DBNDD1_ENST00000304733.3_Missense_Mutation_p.E177K			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	157						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTCTAGTCCTCCTGGGGCCTC	0.642000													11	8					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418746	8418746	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8418746G>A	ENST00000337907.3	-	21	4483	c.3849C>T	c.(3847-3849)ccC>ccT	p.P1283P	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P1015P|RERE_ENST00000400908.2_Silent_p.P1283P|RERE_ENST00000476556.1_Silent_p.P729P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1283					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGCCAGCAGGGGGTCCGTGG	0.672000													21	33					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67207899	67207899	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67207899C>T	ENST00000393893.1	-	8	871	c.768G>A	c.(766-768)gaG>gaA	p.E256E	CORO1B_ENST00000341356.5_Silent_p.E256E	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCATGGGTTCCTCGAGGTTTT	0.627000													15	39					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27823642	27823642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27823642C>T	ENST00000355467.4	+	6	625	c.542C>T	c.(541-543)aCc>aTc	p.T181I	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.T180I|ZNF512_ENST00000416005.2_Missense_Mutation_p.T152I|ZNF512_ENST00000413371.2_Missense_Mutation_p.T104I			Q96ME7	ZN512_HUMAN	zinc finger protein 512	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGGAGGAAGACCATAGAGGGT	0.423000													31	47					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054727	49054727	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49054727C>T	ENST00000440857.1	-	6	1062	c.360G>A	c.(358-360)gaG>gaA	p.E120E	DALRD3_ENST00000395462.4_Silent_p.E120E|DALRD3_ENST00000341949.4_Silent_p.E287E|DALRD3_ENST00000441576.2_Silent_p.E287E|DALRD3_ENST00000313778.5_Silent_p.E120E			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	287					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGAACTCCTCCTCACAGC	0.507000													40	72					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3982015	3982015	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3982015G>A	ENST00000309311.6	-	6	915	c.827C>T	c.(826-828)tCa>tTa	p.S276L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	276						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGGCTGACTTGCTGAA	0.612000													49	24					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596373	153596373	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153596373G>A	ENST00000422373.1	-	3	707	c.459C>T	c.(457-459)ccC>ccT	p.P153P	FLNA_ENST00000369850.3_Silent_p.P153P|FLNA_ENST00000360319.4_Silent_p.P153P|FLNA_ENST00000344736.4_Silent_p.P153P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	153	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CGTCCCACATGGGCATGGAGA	0.597000													107	143					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36595903	36595903	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36595903C>T	ENST00000401500.2	+	32	4580	c.4545C>T	c.(4543-4545)gcC>gcT	p.A1515A	WDR62_ENST00000270301.7_Silent_p.A1510A	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1510					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGTGCAGGCCGTGCGGAGGA	0.652000													5	9					0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429936	80429936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:80429936C>T	ENST00000261749.6	+	7	1015	c.593C>T	c.(592-594)cCa>cTa	p.P198L	ZFAND6_ENST00000559835.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.P186L|ZFAND6_ENST00000561060.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.P198L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	198							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAGAAAATCCAGTAGTTGTT	0.353000													7	18					0	0	1	0	0
RPL36A-HNRNPH2	100529097	broad.mit.edu	37	X	100666951	100666951	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100666951T>G	ENST00000409170.3	+	5	360	c.360T>G	c.(358-360)acT>acG	p.T120T	HNRNPH2_ENST00000316594.5_5'UTR																							TGAGCCAAACTTGCCACCAAG	0.463000													57	74					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186088430	186088430	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186088430G>A	ENST00000271588.4	+	78	12185	c.11956_splice	c.e78+1	p.E3986_splice	HMCN1_ENST00000367492.2_Splice_Site_p.E3986_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3986					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATGTTCATGGTATGGAAGG	0.443000													37	40					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61048417	61048417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61048417G>A	ENST00000335613.5	-	8	1464	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	360						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCCCCTGAAGGAGTGAGGGG	0.687000													3	12					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160947	2160947	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2160947C>T	ENST00000378536.4	+	1	814	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	248					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CATCCAGTGCCTGGACTGCCG	0.667000													19	16					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53857423	53857423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53857423C>T	ENST00000315251.5	-	3	1050	c.613G>A	c.(613-615)Gcc>Acc	p.A205T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	205					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCGTGGCCTCCAGGAAT	0.682000													6	9					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98994154	98994154	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:98994154C>T	ENST00000393504.1	+	3	523	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	CNGA3_ENST00000409937.1_5'UTR|CNGA3_ENST00000436404.2_Missense_Mutation_p.H36Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.H36Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	36					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCCTAGAGCCCACTCGTCAAG	0.567000													6	12					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559547	228559547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228559547C>T	ENST00000570156.2	+	105	24013	c.23939C>T	c.(23938-23940)tCc>tTc	p.S7980F	OBSCN_ENST00000422127.1_Missense_Mutation_p.S7023F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4657F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7023					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGGCCATCCCCGGACAGC	0.697000													31	8					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824853	124824853	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824853G>A	ENST00000356219.3	-	37	5651	c.5496C>T	c.(5494-5496)ccC>ccT	p.P1832P	NCOR2_ENST00000404621.1_Silent_p.P1815P|NCOR2_ENST00000429285.2_Silent_p.P1815P|NCOR2_ENST00000405201.1_Silent_p.P1825P|NCOR2_ENST00000404121.2_Silent_p.P1386P|NCOR2_ENST00000397355.1_Silent_p.P1816P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1833					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCTCCAGATGGGTGCGTGCT	0.682000													14	28					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21060963	21060963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21060963G>A	ENST00000261383.3	-	31	4387	c.4388C>T	c.(4387-4389)gCt>gTt	p.A1463V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1463V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1463	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCCCCATAGCTTTGTAATC	0.507000													33	54					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102762580	102762580	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102762580C>T	ENST00000370220.1	+	1	3348	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LZTS2_ENST00000370223.3_Silent_p.F95F			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	95	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ATGAGGACTTCCGGACAGAGT	0.627000													16	33					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390214	27390214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:27390214C>T	ENST00000379214.4	-	18	2499	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	LGR4_ENST00000389858.4_Missense_Mutation_p.E662K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	686						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCAGAATATTCCCCTCTATGG	0.438000													32	40					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100061805	100061805	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:100061805G>A	ENST00000369214.1	+	4	1585	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	PRDM13_ENST00000369215.4_Missense_Mutation_p.E432K	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTTGCCCCTCGAGCGCTGCGC	0.736000													13	2					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154213059	154213059	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154213059T>G	ENST00000360256.4	-	6	890	c.690A>C	c.(688-690)gaA>gaC	p.E230D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	230	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTTTGTTTCTGAGTGCC	0.493000													64	81					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91490132	91490132	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91490132C>T	ENST00000394275.2	+	13	2278	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	UNC45A_ENST00000418476.2_Silent_p.I496I	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	496					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCATCCGCATCCGGGCGCTAG	0.637000													16	43					0	0	1	0	0
SLF2	55719	broad.mit.edu	37	10	102684487	102684487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102684487C>T	ENST00000238961.3	+	5	1877	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	FAM178A_ENST00000370271.3_Missense_Mutation_p.P577S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P577S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	577																	AGATAAAGCCCCTTCAGAAGG	0.458000													19	44					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184305	60184305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60184305C>T	ENST00000300187.6	+	5	2141	c.1864C>T	c.(1864-1866)Caa>Taa	p.Q622*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.Q605*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.Q655*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.Q510*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	622	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGACAATTCCAAAATGTTCA	0.463000													23	26					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3149530	3149530	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3149530G>A	ENST00000359864.2	+	13	1381		c.e13-1		TEAD4_ENST00000358409.2_Splice_Site|TEAD4_ENST00000397122.2_Splice_Site	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4						hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCTCCCACAGGTGGTCACCA	0.582000													18	30					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000													36	61					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56244544G>A	ENST00000332836.2	-	2	680	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT.					cytoplasm	ATP binding	p.S218F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478000													16	24					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17498277	17498277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:17498277C>T	ENST00000302539.4	-	1	172	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.R16Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	16					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGGTCCACCCGGTAGGCGGC	0.682000													7	12					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413933	48413933	+	Missense_Mutation	SNP	G	G	A	rs141580368		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48413933G>A	ENST00000249598.1	-	2	1094	c.935C>T	c.(934-936)tCg>tTg	p.S312L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	312					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCTAAAGTCGACCCCGCAGC	0.617000													33	46					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825001	74825001	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74825001C>T	ENST00000256362.4	+	2	1756	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	505					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCCCCTGTCCCGTTGGCAGA	0.662000													41	43					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103453203	103453203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103453203G>A	ENST00000358392.2	-	30	2841	c.2524C>T	c.(2524-2526)Caa>Taa	p.Q842*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q714*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q830*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q791*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	830	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q842*(1)|p.Q830*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCTGCTTGACCTGAAGGA	0.463000													15	46					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29245103	29245103	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29245103G>A	ENST00000379558.4	+	11	1791	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	FAM179A_ENST00000403861.2_Silent_p.K425K|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	480							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCCTGTAAGGAGTTGAGGC	0.542000													28	48					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103243847	103243847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:103243847C>T	ENST00000428762.1	-	24	3396	c.3237G>A	c.(3235-3237)tgG>tgA	p.W1079*	RELN_ENST00000343529.5_Nonsense_Mutation_p.W1079*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W1079*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1079					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTCAGACTCCCAGCCATTCT	0.478000													45	85					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70787526	70787526	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70787526G>A	ENST00000373719.3	+	20	2983	c.2766G>A	c.(2764-2766)ttG>ttA	p.L922L	OGT_ENST00000373701.3_Silent_p.L912L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	922					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGTCTGCTTGGACACTCCAC	0.527000													26	15					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223143	140223143	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140223143G>A	ENST00000531613.1	+	1	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G746E|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCGGTGGGGAGCTGGTCA	0.662000													15	31					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535766	15535766	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15535766G>A	ENST00000389282.4	-	8	4471	c.4258C>T	c.(4258-4260)Ctg>Ttg	p.L1420L	WIZ_ENST00000545156.1_Silent_p.L734L|WIZ_ENST00000263381.6_Silent_p.L563L|WIZ_ENST00000599910.1_Silent_p.L737L|WIZ_ENST00000599686.2_Silent_p.L604L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1420						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AACTGCCGCAGGTGTGCCCGT	0.672000													7	6					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623849	21623849	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:21623849G>A	ENST00000304418.3	-	1	373	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCTTCAGGAGGGAGTACATGG	0.542000													20	31					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133564	153133564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133564C>T	ENST00000370060.1	-	15	1906	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	L1CAM_ENST00000370055.1_Missense_Mutation_p.D568N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D575N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D568N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D575N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D573N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D573N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	573	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGCCCATCCTCTATGAAG	0.612000													24	37					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65441107	65441107	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:65441107G>A	ENST00000304895.4	-	5	937	c.807C>T	c.(805-807)gtC>gtT	p.V269V	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.V269V	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	269					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CATTCGCCACGACTTTGTTTT	0.522000													18	58					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085508	92085508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92085508G>A	ENST00000298047.6	+	1	247	c.230G>A	c.(229-231)tGg>tAg	p.W77*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W77L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTATCCTGGGATATCAAA	0.408000										TCGA Ovarian(4;0.039)			15	32					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68145181	68145181	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:68145181C>T	ENST00000262215.3	-	23	3679		c.e23-1		ARFGEF1_ENST00000518230.1_Splice_Site|ARFGEF1_ENST00000520381.1_Splice_Site	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTCCTCCAACTACCACACAT	0.348000													41	74					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138195306	138195306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:138195306G>A	ENST00000389567.4	+	22	2782	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	866						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTTATCAAAAGAAGATCTGAT	0.348000													19	41					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208921	78208921	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:78208921C>T	ENST00000565869.1	+	0	58																											ATGTTCTCCTCCATCTCCTGT	0.622000													24	62					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308465	248308465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248308465C>T	ENST00000366476.1	+	1	16	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGGGAGAATCAGACCTTCAA	0.423000													126	59					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31015182	31015182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31015182C>T	ENST00000399914.1	-	7	1583	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	354					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTCCGAGGCGCCATGGCTTAT	0.577000													31	14					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053707	94053707	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:94053707C>T	ENST00000297268.6	+	41	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	875					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468000										HNSCC(75;0.22)			29	97					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420672	49420672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49420672G>A	ENST00000301067.7	-	48	15076	c.15077C>T	c.(15076-15078)cCg>cTg	p.P5026L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CATGTCTCGCGGTACCTTGTC	0.622000													34	48					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538529	55538529	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:55538529T>C	ENST00000220676.1	+	4	2235	c.2087T>C	c.(2086-2088)cTt>cCt	p.L696P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	696					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGGAATTCTTAATAAGAAT	0.358000													18	22					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217885	97217885	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:97217885C>T	ENST00000454558.2	+	7	2593	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	ARID5A_ENST00000357485.3_Silent_p.A540A			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	540					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTCCTGGCCACCGCAGGCC	0.697000													66	115					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016341	132016341	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:132016341C>T	ENST00000374786.1	+	2	812	c.333C>T	c.(331-333)ggC>ggT	p.G111G	NTM_ENST00000374784.1_Silent_p.G111G|NTM_ENST00000539799.1_Silent_p.G111G|NTM_ENST00000427481.2_Silent_p.G102G|NTM_ENST00000425719.2_Silent_p.G111G|NTM_ENST00000374791.3_Silent_p.G111G	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	111	Ig-like C2-type 1.				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						ATGACGAGGGCCCTTACACCT	0.582000													20	43					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805827	77805827	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:77805827G>A	ENST00000380345.2	-	4	885	c.210C>T	c.(208-210)aaC>aaT	p.N70N	LHFPL2_ENST00000515007.2_Silent_p.N70N	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	70						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GCACCCCTGGGTTCCGGATGC	0.726000													11	9					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516741	157516741	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157516741A>G	ENST00000361835.3	-	3	456	c.299T>C	c.(298-300)tTt>tCt	p.F100S	FCRL5_ENST00000368188.2_Missense_Mutation_p.F100S|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.F100S|FCRL5_ENST00000368190.3_Missense_Mutation_p.F100S|FCRL5_ENST00000356953.4_Missense_Mutation_p.F100S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	100	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCTGAAGAAAAATCCAAGTG	0.473000													33	38					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15607790	15607790	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15607790G>A	ENST00000281513.5	-	18	2041	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NBAS_ENST00000441750.1_Silent_p.S672S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672								p.S672S(1)		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						TCATTTACTTGGAAAAGTTCA	0.328000													6	16					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686757	100686757	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100686757C>A	ENST00000306151.4	+	3	12124	c.12060C>A	c.(12058-12060)ggC>ggA	p.G4020G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4020						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCAGAGGCTGCACTACTT	0.527000													57	91					2.30037e-20	2.34744e-20	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200969700	200969700	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:200969700G>A	ENST00000332129.2	-	11	1819	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	KIF21B_ENST00000360529.5_Silent_p.S501S|KIF21B_ENST00000422435.2_Silent_p.S501S|KIF21B_ENST00000461742.2_Silent_p.S501S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	501					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGGCGCAGGGACTCGTTCA	0.672000													11	27					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783494	140783494	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140783494G>A	ENST00000573521.1	+	1	975	c.975G>A	c.(973-975)ggG>ggA	p.G325G	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTGGGGGATTGAAAG	0.383000													36	105					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447251	179447251	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179447251C>T	ENST00000589042.1	-	314	66156	c.65932G>A	c.(65932-65934)Gaa>Aaa	p.E21978K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19410K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20337K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13038K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13105K|TTN_ENST00000460472.2_Missense_Mutation_p.E12913K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20337	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGGCGGTTCCCAAGAAAGC	0.443000													27	32					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66257437	66257437	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:66257437G>A	ENST00000409699.2	-	9	1093	c.921C>T	c.(919-921)ttC>ttT	p.F307F	MEGF11_ENST00000422354.1_Silent_p.F307F|MEGF11_ENST00000360698.4_Silent_p.F307F|MEGF11_ENST00000395625.2_Silent_p.F232F|MEGF11_ENST00000288745.3_Silent_p.F232F|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	307						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGAAGGACCCGAAGGGGCACT	0.627000													4	6					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90642434	90642434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:90642434G>A	ENST00000257749.4	-	9	2926	c.2219C>T	c.(2218-2220)aCg>aTg	p.T740M	BACH2_ENST00000537989.1_Missense_Mutation_p.T740M|BACH2_ENST00000343122.3_Missense_Mutation_p.T740M	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	740						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGGAGGCCGTGGGCAAGTC	0.617000													31	15					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118337	194118337	+	Silent	SNP	G	G	A	rs146555099		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:194118337G>A	ENST00000401815.1	-	1	746	c.675C>T	c.(673-675)ttC>ttT	p.F225F	GP5_ENST00000323007.3_Silent_p.F225F			P40197	GPV_HUMAN	glycoprotein V (platelet)	225					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.F225F(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GATTTCGGTGGAACTGCAGCT	0.587000													86	135					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151271933	151271933	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:151271933G>A	ENST00000274576.4	-	2	415	c.123C>T	c.(121-123)ttC>ttT	p.F41F	GLRA1_ENST00000455880.2_Silent_p.F41F|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	41					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCAGGAAATCCGAGG	0.498000													23	32					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151358325	151358325	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151358325C>G	ENST00000370314.4	-	9	1258	c.1020G>C	c.(1018-1020)tgG>tgC	p.W340C	GABRA3_ENST00000535043.1_Missense_Mutation_p.W340C|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000370311.1_Missense_Mutation_p.W340C	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	340					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGCTATGAACCAGTCCATGG	0.483000													51	43					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930839	116930839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:116930839C>T	ENST00000356083.3	+	3	1395	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	335	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCACTTGATCCCATGCTCCCA	0.607000													31	10					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846126	18846126	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:18846126G>A	ENST00000412938.1	+	0	3484																											ACTGGCGCACGATGTAGGGCA	0.617000													4	28					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482103	123482103	+	Missense_Mutation	SNP	G	G	A	rs143163958		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123482103G>A	ENST00000280562.5	-	10	1446	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	PITPNM2_ENST00000542749.1_Missense_Mutation_p.P414L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P135L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P414L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	414					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCAGCCAGCGGCTGGCTAAC	0.662000													50	130					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4798813	4798813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:4798813C>T	ENST00000328914.4	+	6	1376	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S296F	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	459					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AAGTTAGCTTCTGTCCCAGAG	0.687000													87	87					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246289	45246289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:45246289C>T	ENST00000263765.4	+	8	1615	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.R456W|PRDM11_ENST00000424263.2_Missense_Mutation_p.R422W			Q9NQV5	PRD11_HUMAN	PR domain containing 11	456										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAAGAAGGTTCGGGAGCTCCA	0.552000													96	162					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950750	198950750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:198950750G>A	ENST00000428675.1	+	2	2907	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E739K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	837					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E739*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGACATCATGGAGCACGTAAC	0.458000													18	50					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538400	31538400	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31538400C>T	ENST00000286808.3	-	1	571	c.536G>A	c.(535-537)gGg>gAg	p.G179E		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	179					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AAGCAGACCCCCTCCAATGAA	0.512000													7	40					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582518	136582518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:136582518G>A	ENST00000531224.1	-	12	2894	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S830L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S879L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S830L|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S99L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S832L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S708L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	881					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S881L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTGCTACCTGATTTTTTGAA	0.428000													53	181					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142506530	142506530	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142506530C>T	ENST00000430863.1	-	0	232					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCATCTGTCCCTGCGGGCAGA	0.582000													11	41					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	983443	983443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:983443G>A	ENST00000379370.2	+	23	3853	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1268	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ATTGCTGCGGGAGCCACGGCC	0.667000													2	1					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155687	22155687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22155687C>T	ENST00000397126.4	-	4	2297	c.2149G>A	c.(2149-2151)Gga>Aga	p.G717R	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)				GGTTTCTCTCCAGTATGAATT	0.373000													14	17					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57908527	57908527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57908527C>T	ENST00000366197.5	+	2	377	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.L55F|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.L55F|ZNF548_ENST00000336128.7_Missense_Mutation_p.L55F|AC003002.6_ENST00000600421.1_3'UTR|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTTGGCCCTTTTGTCCTC	0.532000													135	225					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306173	27306173	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27306173G>A	ENST00000380320.4	+	4	2233	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCATGGGGATGAGGGCT	0.657000													23	26					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190129883	190129883	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:190129883G>A	ENST00000367462.3	-	7	1330	c.1099C>T	c.(1099-1101)Cta>Tta	p.L367L	FAM5C_ENST00000534846.1_Silent_p.L265L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		367						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCGCCTTTAGGAAAAGTTGT	0.398000													33	51					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575193	74575193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74575193C>T	ENST00000354431.4	-	5	943	c.752G>A	c.(751-753)aGa>aAa	p.R251K	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.R143K|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R251K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	251										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATATCCTCTAATAATTTT	0.318000													16	29					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20463022	20463022	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:20463022G>A	ENST00000361078.2	-	13	2179	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	PUM2_ENST00000319801.5_Silent_p.F640F|PUM2_ENST00000403432.1_Silent_p.F719F|PUM2_ENST00000338086.5_Silent_p.F719F|PUM2_ENST00000536417.1_Silent_p.F663F			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	719	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGTTTGGGAAGCGGTTGT	0.423000													24	42					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2951409	2951409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2951409C>T	ENST00000381130.2	+	9	1672	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	558						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGATGACATCCTTCCCATGGC	0.517000													9	20					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35677969	35677969	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:35677969T>A	ENST00000396081.1	-	5	1412	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y203F|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	203					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTACTGCATATAATACTGATG	0.388000													17	53					0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28196631	28196631	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28196631G>A	ENST00000301908.3	+	3	409	c.201G>A	c.(199-201)agG>agA	p.R67R	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.R3R	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	67					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TCATGGCCAGGAGCTCTTGGC	0.627000													27	49					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880892	70880892	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:70880892C>T	ENST00000333538.5	+	4	1241	c.607C>T	c.(607-609)Cta>Tta	p.L203L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	203	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAGGTCCCCCTAGAGGAGTA	0.493000													12	34					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45436378	45436378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:45436378C>T	ENST00000321429.4	+	18	2488	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	DUOX1_ENST00000389037.3_Missense_Mutation_p.S694F|DUOX1_ENST00000561166.1_Missense_Mutation_p.S340F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	694					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTCGTCCTGTCCAGCAACCGT	0.612000													25	36					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237819251	237819251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237819251G>A	ENST00000366574.2	+	53	8413	c.8096G>A	c.(8095-8097)gGg>gAg	p.G2699E	RYR2_ENST00000360064.6_Missense_Mutation_p.G2697E|RYR2_ENST00000542537.1_Missense_Mutation_p.G2683E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2699	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTCTGAAGGGAACTTTAAC	0.403000													8	4					0	0	1	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929339	40929339	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40929339C>T	ENST00000357949.4	-	2	273	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	39	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGCCACGGCCGGGGGTGCC	0.637000													15	24					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184188	60184188	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60184188G>A	ENST00000300187.6	+	5	2024	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	MS4A14_ENST00000395005.2_Missense_Mutation_p.D566N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D616N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D471N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	583	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAATCTAAAGATGGACAAGT	0.443000													23	24					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180008406	180008406	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:180008406G>A	ENST00000428443.3	-	9	1078	c.762C>T	c.(760-762)ctC>ctT	p.L254L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	254					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTGCTCTCGGAGTGAATCTA	0.458000													32	71					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913449	35913449	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:35913449G>A	ENST00000339208.6	-	14	2516	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	SYNRG_ENST00000585472.1_Silent_p.S713S|SYNRG_ENST00000502449.2_Silent_p.S714S|SYNRG_ENST00000394378.2_Silent_p.S714S|SYNRG_ENST00000345615.4_Silent_p.S714S|SYNRG_ENST00000346661.4_Silent_p.S792S|SYNRG_ENST00000591288.1_Silent_p.S631S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	792					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTCCCAGGGATTTGTCCG	0.448000													30	52					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932305	23932305	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932305G>A	ENST00000331837.4	-	1	145	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	20					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGTGCACCTCGGAGTTGGGGG	0.667000									Prader-Willi syndrome				14	10					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95079641	95079641	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95079641G>A	ENST00000371501.4	-	49	5708	c.5586C>T	c.(5584-5586)atC>atT	p.I1862I	MYOF_ENST00000371502.4_Silent_p.I1852I|MYOF_ENST00000359263.4_Silent_p.I1862I|MYOF_ENST00000358334.5_Silent_p.I1849I			Q9NZM1	MYOF_HUMAN	myoferlin	1862					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTCGCAACGATACAGAGTT	0.443000													23	44					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74320791	74320791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74320791G>A	ENST00000409262.3	+	7	2860	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	954							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGTGCACCGTGGTAAGCCT	0.627000													22	37					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23237204	23237204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23237204C>T	ENST00000358043.5	+	3	533	c.215C>T	c.(214-216)cCc>cTc	p.P72L	OXA1L_ENST00000285848.5_Missense_Mutation_p.P148L|OXA1L_ENST00000412791.1_Missense_Mutation_p.P88L|OXA1L_ENST00000604262.1_Missense_Mutation_p.P88L			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	88					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACTCCCTCACCCACAGCAGTA	0.507000													14	28					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926477	50926477	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50926477G>A	ENST00000395732.3	+	4	362	c.340_splice	c.e4+1	p.D114_splice	MIOX_ENST00000216075.6_Splice_Site_p.D114_splice|MIOX_ENST00000395733.3_Splice_Site_p.V114_splice			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	114					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGACAAGGGTGAGCCCTG	0.657000													19	24					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22054265	22054265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22054265C>T	ENST00000306385.5	+	14	2508	c.1838C>T	c.(1837-1839)cCc>cTc	p.P613L	BMP1_ENST00000397816.3_Missense_Mutation_p.P613L|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.P613L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	613	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGTACCCCCCCAACAAGAAC	0.602000													22	33					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696637	169696637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169696637C>T	ENST00000333360.7	-	10	1637	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	SELE_ENST00000367777.1_Missense_Mutation_p.G437R|SELE_ENST00000367780.4_Missense_Mutation_p.G375R|SELE_ENST00000367781.4_Missense_Mutation_p.G437R|SELE_ENST00000367774.1_Missense_Mutation_p.G374R|SELE_ENST00000367776.1_Missense_Mutation_p.G437R|SELE_ENST00000367779.4_Missense_Mutation_p.G374R|SELE_ENST00000367782.4_Missense_Mutation_p.G437R|SELE_ENST00000367775.1_Missense_Mutation_p.G375R|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	500	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGATCTTTCCCGGAACTGCC	0.488000													13	20					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900837	51900837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:51900837C>T	ENST00000268919.4	+	1	599	c.443C>T	c.(442-444)cCc>cTc	p.P148L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	148			P -> S (in dbSNP:rs59657238).		blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAAGTCTCCCTGCCTCTGG	0.567000													48	60					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077805	19077805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:19077805C>T	ENST00000329773.2	-	2	232	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	49					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCACAAACCCGTTTCCTACC	0.582000													44	99					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794384	55794384	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55794384G>A	ENST00000379665.2	+	1	171	c.72G>A	c.(70-72)gtG>gtA	p.V24V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TACAAGTTGTGATATTCTTCT	0.318000													20	12					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38462075	38462075	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38462075G>A	ENST00000356264.2	-	16	1433	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	AMPH_ENST00000325590.5_Silent_p.P406P|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.P406P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGTATCCTGGGGCTGAAAAT	0.353000													54	83					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54804025	54804025	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54804025G>A	ENST00000545554.1	+	23	5454	c.5454G>A	c.(5452-5454)aaG>aaA	p.K1818K	UNC13C_ENST00000260323.11_Silent_p.K1818K|UNC13C_ENST00000537900.1_Silent_p.K1816K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1818					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGAGGGAAGGAGGTGGGTA	0.343000													6	5					0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59359986	59359986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:59359986C>T	ENST00000399598.2	+	8	994	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	291	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGTCTCGTCCTGAATTTGCG	0.333000													30	50					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651377	142651377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142651377G>A	ENST00000355265.2	-	8	1292	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	273					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATTGACAAGGAAGAGTGTTC	0.542000													38	34					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105452939	105452939	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105452939C>T	ENST00000547315.1	+	1	810	c.171C>T	c.(169-171)ccC>ccT	p.P57P		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	57										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCTCCATGCCCCGTGAGGGCG	0.597000													24	50					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927811	22927811	+	Silent	SNP	C	C	T	rs150592901	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22927811C>T	ENST00000166244.3	+	16	2820	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	916						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCCTGCCTTCGTCCGGAGCT	0.687000													38	42					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6533116	6533116	+	Silent	SNP	C	C	T	rs146045718	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:6533116C>T	ENST00000321612.6	-	25	3114	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	988					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTCATCAATCCGGGCAATCG	0.458000													64	18					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967749	2967749	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2967749G>A	ENST00000520002.1	-	44	7097	c.6542C>T	c.(6541-6543)cCa>cTa	p.P2181L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2181L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2180L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2180L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2181	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCGTGCCCTGGAGGCACCGT	0.483000													6	11					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000677	49000677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49000677G>A	ENST00000600059.1	-	11	3876	c.3649C>T	c.(3649-3651)Cct>Tct	p.P1217S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246S					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTCCCCTGAGGGGGTCCCAAG	0.672000													16	49					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70008443	70008443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:70008443G>A	ENST00000352241.4	+	9	1196	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	MITF_ENST00000531774.1_Missense_Mutation_p.G182R|MITF_ENST00000328528.6_Missense_Mutation_p.G344R|MITF_ENST00000394355.2_Missense_Mutation_p.G320R|MITF_ENST00000314589.5_Missense_Mutation_p.G329R|MITF_ENST00000394351.3_Missense_Mutation_p.G244R|MITF_ENST00000448226.2_Missense_Mutation_p.G351R|MITF_ENST00000472437.1_Missense_Mutation_p.G293R|MITF_ENST00000314557.6_Missense_Mutation_p.G238R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	351	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.G244R(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGGAACAAGGGAACCATCTT	0.418000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						13	36					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145610319	145610319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145610319C>T	ENST00000265271.5	+	6	855	c.689C>T	c.(688-690)tCc>tTc	p.S230F	RBM27_ENST00000506502.1_Missense_Mutation_p.S230F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	230					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCAGTATTCCTCTGGGGCA	0.463000													27	37					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605991	1605991	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1605991G>A	ENST00000382171.2	-	1	522	c.489C>T	c.(487-489)tcC>tcT	p.S163S	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGCCCCCTTGGAGCACCCAC	0.652000													46	107					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	86778790	86778790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:86778790C>T	ENST00000340353.7	+	2	398	c.196C>T	c.(196-198)Cct>Tct	p.P66S	TMEM135_ENST00000305494.5_Missense_Mutation_p.P66S|TMEM135_ENST00000355734.4_Missense_Mutation_p.P66S|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	66						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAACTACTCCCTGAGATCCT	0.373000													25	41					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421395	62421395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62421395C>T	ENST00000245663.4	-	2	866	c.716G>A	c.(715-717)gGa>gAa	p.G239E	ZBTB46_ENST00000395104.1_Missense_Mutation_p.G239E|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G239E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCGCTCCCTCCGTACTGAGA	0.582000													35	30					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986677	44986677	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44986677G>A	ENST00000296127.3	-	3	687	c.414C>T	c.(412-414)gaC>gaT	p.D138D	ZDHHC3_ENST00000424952.2_Silent_p.D138D|ZDHHC3_ENST00000342790.4_Silent_p.D172D	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	138						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GGTGGGCTCGGTCGGGCTTGA	0.577000													47	64					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128942	83128942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83128942C>T	ENST00000329312.4	+	4	1263	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	409					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCTACTGATTCTGAATCTGAA	0.318000													13	11					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021343	46021343	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:46021343C>T	ENST00000380102.2	+	1	847	c.822C>T	c.(820-822)gtC>gtT	p.V274V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	274	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGTGCCCGTCTGCTGTAAGC	0.627000													91	50					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129125494	129125494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129125494C>T	ENST00000249344.2	+	21	2369	c.2329C>T	c.(2329-2331)Cgt>Tgt	p.R777C		NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTTAACAGCCGTCGCTATGA	0.498000													28	35					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698393	79698393	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79698393G>A	ENST00000538312.1	+	5	689	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	FAM46D_ENST00000308293.5_Missense_Mutation_p.E119K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	119										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTAAAGAAGGAAAAGCTCTC	0.378000													42	93					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234586268	234586268	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:234586268G>A	ENST00000040877.1	-	10	1766	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	589					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACACGTAGGGGATGGCTTAA	0.353000													17	31					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93486190	93486190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:93486190C>G	ENST00000394196.4	+	9	2012	c.944C>G	c.(943-945)tCt>tGt	p.S315C	CHD2_ENST00000536619.1_Missense_Mutation_p.S328C|CHD2_ENST00000420239.2_Missense_Mutation_p.S315C|CHD2_ENST00000557381.1_Missense_Mutation_p.S315C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	315	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGGGTTGGTCTTACATCCAC	0.428000													32	43					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50255951	50255951	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:50255951G>A	ENST00000338821.5	-	15	1863	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	ATP9A_ENST00000402822.1_Silent_p.I412I|ATP9A_ENST00000311637.5_Silent_p.I397I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	533					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGAAGTTCAGGATCTGGTCGC	0.522000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	76					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481402	123481402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123481402G>A	ENST00000280562.5	-	11	1733	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	PITPNM2_ENST00000542749.1_Missense_Mutation_p.P510S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P231S|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P510S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	510					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCAGCCAGGGGAATGTGGTCC	0.637000													25	58					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95399918	95399918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95399918G>A	ENST00000371447.3	+	12	1712	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	525					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ATTAAATGTGGAATACGACTG	0.413000													54	81					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158718982	158718982	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:158718982A>T	ENST00000407559.3	+	18	2520	c.2362A>T	c.(2362-2364)Act>Tct	p.T788S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	788										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACCCTTTTCTACTCAAGAAGG	0.388000													8	17					0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179440081	179440081	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:179440081T>A	ENST00000522208.2	-	3	691	c.673A>T	c.(673-675)Aat>Tat	p.N225Y	RNF130_ENST00000521389.1_Missense_Mutation_p.N225Y|RNF130_ENST00000261947.4_Missense_Mutation_p.N225Y			Q86XS8	GOLI_HUMAN	ring finger protein 130	225					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGCGTGCATTTGTGTACCTG	0.433000													59	85					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019811	23019811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:23019811G>A	ENST00000327968.5	+	1	1725	c.1637G>A	c.(1636-1638)aGg>aAg	p.R546K	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	546	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GATTTCCCAAGGAATATTGAC	0.383000													61	81					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17040363	17040363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:17040363C>T	ENST00000357277.3	+	3	686	c.515C>T	c.(514-516)tCc>tTc	p.S172F	REPS2_ENST00000303843.7_Missense_Mutation_p.S172F|REPS2_ENST00000380064.4_Missense_Mutation_p.S33F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	172					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAAAAAAATTCCTTCAAAAGA	0.393000													27	56					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28254883	28254883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28254883C>T	ENST00000405948.2	+	4	1000	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L194F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	194					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGCTCATCTCCAGGAAAA	0.512000													26	16					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30098370	30098370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:30098370G>A	ENST00000380752.5	-	6	1111	c.725C>T	c.(724-726)cCc>cTc	p.P242L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	242					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCAACACCGGGCTTCCCTTC	0.542000													15	24					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039040	55039040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55039040C>T	ENST00000456047.2	-	4	395	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DCD_ENST00000293371.6_Missense_Mutation_p.G69D			P81605	DCD_HUMAN	dermcidin	69					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TCCGTCTAGGCCTTTTTCTAG	0.488000													28	47					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417302	29417302	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:29417302A>T	ENST00000378993.1	+	5	1253	c.580A>T	c.(580-582)Att>Ttt	p.I194F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I194F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	194	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAGGCCAAGTATTGTATTCAA	0.313000													31	22					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144887384	144887384	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144887384G>A	ENST00000356994.2	-	19	2574	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	SCRIB_ENST00000320476.3_Silent_p.P856P|SCRIB_ENST00000377533.3_Silent_p.P775P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	856	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGACGGAGGGGCCCGGGGC	0.716000													5	4					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240231	27240231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:27240231G>A	ENST00000577226.1	-	9	1704	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	PHF12_ENST00000332830.4_Missense_Mutation_p.P453L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	453	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAATGCGAAGGCATCTGCTT	0.498000													53	77					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49934739	49934739	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49934739G>A	ENST00000296474.3	-	7	2184	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	MST1R_ENST00000344206.4_Silent_p.V719V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	719	IPT/TIG 2.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTCCCATTGACCAGCACAG	0.602000													29	66					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445853	29445853	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29445853T>A	ENST00000544604.2	+	8	1859	c.1684T>A	c.(1684-1686)Tgt>Agt	p.C562S	ZNRF3_ENST00000332811.4_Missense_Mutation_p.C462S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.C462S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.C462S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	562						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCAGTGCCACTGTTCCTCCAG	0.637000													37	38					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191138	72191138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72191138C>T	ENST00000356056.5	-	25	4178	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1217K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E856K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1236	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGCTCTCTCCTGCTGCTTG	0.458000													64	112					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538590	63538590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:63538590G>A	ENST00000550760.3	+	4	1342	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AATCATAAGAGAATTCACACT	0.373000													10	7					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120362333	120362333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:120362333C>T	ENST00000602047.1	+	10	1131	c.19C>T	c.(19-21)Cga>Tga	p.R7*	PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R293*|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		293						cilium	calmodulin binding					Colorectal(110;0.196)					AAATTTTCACCGACCGCCAGC	0.448000													22	44					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15567889	15567889	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15567889G>A	ENST00000281513.5	-	22	2394	c.2369C>T	c.(2368-2370)cCt>cTt	p.P790L	NBAS_ENST00000441750.1_Missense_Mutation_p.P790L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	790										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						TTCATGCCAAGGAATGATCAT	0.403000													6	14					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949315	89949315	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:89949315C>T	ENST00000405460.2	+	20	4020	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1308					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGAATTTTCCCCACCACCG	0.483000													10	14					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100117396	100117396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100117396C>T	ENST00000372966.3	-	6	861	c.656G>A	c.(655-657)gGg>gAg	p.G219E	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G219E|NOX1_ENST00000372960.4_Missense_Mutation_p.G182E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	219	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCCGTGAATCCCTAAGCCAAG	0.433000													86	173					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061937	100061937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:100061937G>A	ENST00000524871.1	+	14	1950	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	554	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGCCGAGGGGAAAACGTCTT	0.408000													11	19					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106721	90106721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90106721C>T	ENST00000405460.2	+	74	15740	c.15644C>T	c.(15643-15645)tCc>tTc	p.S5215F	GPR98_ENST00000425867.2_Missense_Mutation_p.S876F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5215					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S5215F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATGTTTCCATTCATGGA	0.458000													28	39					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245051	59245051	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59245051C>T	ENST00000530162.1	+	1	206	c.149C>T	c.(148-150)aCc>aTc	p.T50I		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCACTGTTACCTGTGAATCT	0.448000													52	107					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512100	248512100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248512100G>A	ENST00000317861.1	+	1	24	c.24G>A	c.(22-24)atG>atA	p.M8I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCACCGTGATGGAATTTCTCC	0.413000													19	15					0	0	1	0	0
MXD1	4084	broad.mit.edu	37	2	70162484	70162484	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:70162484C>T	ENST00000264444.2	+	4	465	c.203_splice	c.e4-1	p.R69_splice	MXD1_ENST00000540449.1_Splice_Site_p.R59_splice	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	69					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTTTCATAGACGGGCTCATCT	0.498000													16	31					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305272	48305272	+	Silent	SNP	G	G	A	rs149923413		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:48305272G>A	ENST00000535759.1	-	4	1286	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	TPRX1_ENST00000543508.1_Silent_p.P322P|TPRX1_ENST00000322175.3_Silent_p.P332P			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GAGGCCATAAGggggctgggg	0.622000													18	32					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512305	120512305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120512305C>T	ENST00000256646.2	-	6	1156	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	313	EGF-like 8; calcium-binding (Potential).				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	p.G313C(1)		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)		GCACAGGTGCCCCCATTTTGA	0.512000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				16	25					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48826618	48826618	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:48826618G>A	ENST00000314191.2	-	24	2680	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	PRKDC_ENST00000338368.3_Missense_Mutation_p.S875F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	875					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCATCTGAGGACGTGACTGT	0.388000								Non-homologous end-joining					17	29					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77240343	77240343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:77240343C>T	ENST00000248594.6	+	11	1191	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.Q188*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.Q177*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	307						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATGGAGCTCAGAAAATTGC	0.323000													59	93					0	0	1	0	0
GPKOW	27238	broad.mit.edu	37	X	48974028	48974028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48974028C>T	ENST00000156109.5	-	5	781	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	235						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCTGATCTTCCTTATCTTTC	0.607000													29	50					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760852	15760852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:15760852C>T	ENST00000378076.3	-	2	609	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	86					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577000													33	71					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440653	10440653	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10440653C>T	ENST00000245503.5	-	16	2178	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	MYH2_ENST00000397183.2_Silent_p.E598E|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.E598E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	598	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGTTCTTCTCCAGCCAGC	0.522000													58	98					0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161722871	161722871	+	Silent	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161722871A>T	ENST00000367943.4	+	5	713	c.681A>T	c.(679-681)tcA>tcT	p.S227S	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	227					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCAGGCGATCATTATTTCGAA	0.413000													52	55					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177351	170177351	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:170177351G>A	ENST00000263816.3	-	2	408	c.123C>T	c.(121-123)atC>atT	p.I41I	LRP2_ENST00000443831.1_Silent_p.I41I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	41	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTCTGCAGGGATGCAATGCC	0.453000													28	42					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55846853	55846853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:55846853C>T	ENST00000422046.2	-	9	1326	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	CES1_ENST00000360526.3_Missense_Mutation_p.G350R|CES1_ENST00000361503.4_Missense_Mutation_p.G349R			P23141	EST1_HUMAN	carboxylesterase 1	349					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGTTAATTCCGACCATGTAG	0.512000													40	106					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101188698	101188698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:101188698G>A	ENST00000294728.2	+	3	564	c.463G>A	c.(463-465)Gga>Aga	p.G155R	VCAM1_ENST00000370119.4_Missense_Mutation_p.G93R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G155R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G155R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	155	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTACTGAAAGGAGATCATCT	0.468000													12	29					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9800843	9800843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9800843C>T	ENST00000457674.2	-	5	1854	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						cccTTATATTCATAGGGTTCC	0.388000													5	3					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49494739	49494739	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49494739C>T	ENST00000323798.3	-	2	316	c.118_splice	c.e2-1	p.V40_splice	GYS1_ENST00000541188.1_Intron|GYS1_ENST00000263276.6_Splice_Site_p.V40_splice|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	40					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)		AGATGCCACCCACTGTGGGCC	0.677000													67	110					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8678311	8678311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:8678311C>T	ENST00000378641.3	+	11	1523	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C|PLCB1_ENST00000338037.6_Missense_Mutation_p.R350C	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	350	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R350C(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGATGTATCGCCAAGTGCT	0.522000													52	77					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927656	55927656	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55927656G>A	ENST00000313447.1	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I46I(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGGTCAAAATGATCATAGTTA	0.433000													37	74					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128822988	128822988	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:128822988G>A	ENST00000280333.6	+	15	1538	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	477	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCGATTTCAGAGTACAAATC	0.398000													5	8					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699919	17699919	+	Silent	SNP	C	C	T	rs140500933		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17699919C>T	ENST00000353383.1	+	3	4126	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	RAI1_ENST00000261641.6_Silent_p.L1219L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1219						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCGGCCCCTCCATGCGCTCA	0.652000													18	35					0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49484969	49484969	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49484969G>A	ENST00000266991.2	-	2	813	c.507C>T	c.(505-507)gcC>gcT	p.A169A	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	169					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AGTCGAAGCCGGCTTCCACTG	0.592000													60	99					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116406782	116406782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:116406782G>A	ENST00000281928.3	-	28	6394	c.6188C>T	c.(6187-6189)tCt>tTt	p.S2063F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2063					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACCAATTCCAGAAGGAGAGCC	0.473000													36	33					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97861195	97861195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:97861195G>A	ENST00000447648.2	-	13	2194	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	TECPR1_ENST00000379795.3_Missense_Mutation_p.A633V|TECPR1_ENST00000542604.1_Missense_Mutation_p.A562V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	632	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCTCCAGGGCCAAGCGCAC	0.657000													27	39					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022503	12022503	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12022503C>T	ENST00000396373.4	+	5	883	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	203						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCTCCGGTCCCCCCTGGACA	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								86	159					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519834	52519834	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52519834C>T	ENST00000270649.6	-	5	1561	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGTTTCTCCCCTGTATGAG	0.423000													52	77					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261021	151261021	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151261021C>T	ENST00000368879.2	+	3	2231	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAACCTGCCCCATGATGCTCC	0.572000													8	51					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83374962	83374962	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83374962C>T	ENST00000262752.2	-	9	727	c.720G>A	c.(718-720)atG>atA	p.M240I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M240I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	240	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTCAGGAGCCATATACTCTA	0.368000													53	67					0	0	1	0	0
GAR1	54433	broad.mit.edu	37	4	110740164	110740164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:110740164C>T	ENST00000226796.6	+	4	641	c.377C>T	c.(376-378)tCa>tTa	p.S126L	GAR1_ENST00000394631.3_Missense_Mutation_p.S126L	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299000													26	26					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802123	54802123	+	Silent	SNP	G	G	A	rs11574608		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54802123G>A	ENST00000391745.1	-	10	1432	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	LILRA3_ENST00000391744.3_Silent_p.F291F|LILRA3_ENST00000251390.3_Silent_p.F355F					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCAAAAGGAAAGTGTGCA	0.582000													38	57					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77812759	77812759	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812759G>T	ENST00000216468.7	-	3	315	c.260C>A	c.(259-261)cCt>cAt	p.P87H		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	87					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCCTCCAAAGGACCAGTTGC	0.512000													21	50					1.50039e-11	1.51719e-11	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11520910	11520910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:11520910C>T	ENST00000262442.3	+	5	1155	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q363*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	363	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTGCTGCTCCAGGAGATTTG	0.622000													31	53					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133885314	133885314	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:133885314G>A	ENST00000220616.4	+	5	526	c.486G>A	c.(484-486)agG>agA	p.R162R	TG_ENST00000377869.1_Silent_p.R162R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	162	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R162S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TAGGTCCAAGGAGCTGTGAAA	0.453000													8	25					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3623947	3623947	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3623947G>A	ENST00000429344.2	-	2	433	c.381C>T	c.(379-381)ccC>ccT	p.P127P	CACTIN_ENST00000248420.5_Silent_p.P127P|CACTIN_ENST00000221899.3_Silent_p.P59P	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CGGCCGCCCGGGGGCTCTGGG	0.726000													6	8					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782411	107782411	+	Missense_Mutation	SNP	G	G	A	rs149782926		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:107782411G>A	ENST00000311955.3	-	1	62	c.8C>T	c.(7-9)cCg>cTg	p.P3L		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	3					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTTCGCCCGGAGCCATGCT	0.592000													10	38					0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5833255	5833255	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:5833255C>A	ENST00000322002.3	+	1	457	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCCAGCGCCAGCCAGAGCC	0.706000													9	14					9.70103e-10	9.78597e-10	1	1	0
TIMM44	10469	broad.mit.edu	37	19	7998826	7998826	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:7998826C>T	ENST00000270538.3	-	6	874	c.606G>A	c.(604-606)cgG>cgA	p.R202R		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	202					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCTGGGGCCTCCGGTAGGGCC	0.622000													26	15					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31657449	31657449	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31657449G>A	ENST00000375842.4	-	12	1319	c.333C>T	c.(331-333)gcC>gcT	p.A111A	ABHD16A_ENST00000395952.3_Silent_p.A330A|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.A297A			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	330						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CCACATCCATGGCATTAGCCT	0.597000													10	12					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102304787	102304787	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102304787C>T	ENST00000299163.5	+	4	757	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	219	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCTTATTCCCTCCGGATC	0.453000													43	54					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789866	7789866	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:7789866C>T	ENST00000338316.4	+	20	2670	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	ADCY2_ENST00000537121.1_Missense_Mutation_p.P681S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAACGTGCTTCCCGCGCACGT	0.577000													18	21					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85961613	85961613	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85961613C>T	ENST00000372117.3	+	7	679	c.576C>T	c.(574-576)ctC>ctT	p.L192L	CDHR1_ENST00000332904.3_Silent_p.L192L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	192	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCTGCGCCTCCAGGCTGGGG	0.617000													9	27					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101807031	101807031	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101807031G>T	ENST00000375001.3	+	26	3081	c.2658G>T	c.(2656-2658)atG>atT	p.M886I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	886	Triple-helical region 5 (COL5).				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)				AACCTGGAATGCATGGAGCCC	0.463000													38	9					1.15505e-17	1.17689e-17	1	1	0
TWSG1	57045	broad.mit.edu	37	18	9396481	9396481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:9396481C>T	ENST00000262120.5	+	4	618	c.427C>T	c.(427-429)Cca>Tca	p.P143S	TWSG1_ENST00000581641.1_Missense_Mutation_p.P143S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	143										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGTGAACCAGCCACACCACCA	0.443000													34	53					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799986	119799986	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:119799986G>A	ENST00000355624.3	-	2	883	c.444C>T	c.(442-444)acC>acT	p.T148T	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T148T	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	148					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.T148T(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ACATACTTGCGGTCATATTGT	0.338000													19	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089074	9089074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9089074G>A	ENST00000397910.4	-	1	2944	c.2741C>T	c.(2740-2742)tCc>tTc	p.S914F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	914	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAGGTGGGATGAAGAGAA	0.522000													10	1					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543053	10543053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10543053C>T	ENST00000583535.1	-	23	2836	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	MYH3_ENST00000226209.7_Missense_Mutation_p.E917K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	917					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTTGGCCTCGAGCTGGAAT	0.438000													71	92					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052290	68052290	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:68052290C>T	ENST00000344096.3	+	3	2016	c.1603C>T	c.(1603-1605)Ctg>Ttg	p.L535L	DYRK2_ENST00000393555.3_Silent_p.L462L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	535	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCACCCCTGGCTGAGGAGGCG	0.542000													113	31					0	0	1	0	0
TAMM41	132001	broad.mit.edu	37	3	11885623	11885623	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11885623C>T	ENST00000444133.2	-	2	340	c.198G>A	c.(196-198)ctG>ctA	p.L66L	TAMM41_ENST00000455809.1_Silent_p.L66L|TAMM41_ENST00000273037.5_Silent_p.L66L			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	66					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											AATTTTTCTTCAGGTTCTTTG	0.388000													32	33					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111854949	111854949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:111854949G>A	ENST00000369740.1	+	4	296	c.193G>A	c.(193-195)Gag>Aag	p.E65K	CHIA_ENST00000343320.6_Missense_Mutation_p.E65K|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000483391.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	65					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCAGAACAACGAGATCACCAC	0.522000													28	45					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100279	168100279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168100279C>T	ENST00000409195.1	+	9	2466	c.2377C>T	c.(2377-2379)Cga>Tga	p.R793*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R793*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R571*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	618					actin cytoskeleton organization	cell junction	actin binding	p.R793*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGTTGTCCGAGGAATATC	0.403000													24	48					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182605425	182605425	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:182605425C>T	ENST00000323116.5	+	24	3027	c.2767C>T	c.(2767-2769)Cta>Tta	p.L923L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	923					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTTACTTCCCTACCTATTCT	0.343000													31	67					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5798856	5798856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:5798856C>T	ENST00000382674.2	+	14	2178	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.S665L			P57679	EVC_HUMAN	Ellis van Creveld syndrome	665					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGCGGCTATCGGGGAAGAAG	0.682000													18	23					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210640614	210640614	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:210640614C>T	ENST00000439458.1	+	3	223	c.141_splice	c.e3-1	p.S48_splice	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Splice_Site_p.S48_splice	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	48						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						tatttACAGTCCTTTGAGCGA	0.408000													37	21					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878366	27878366	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27878366C>T	ENST00000374011.2	-	6	1229	c.261G>A	c.(259-261)cgG>cgA	p.R87R	AHDC1_ENST00000247087.5_Silent_p.R87R|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	87	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GACGGGCTGCCCGTGGGGGCA	0.741000													21	50					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65119214	65119214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65119214G>A	ENST00000358691.5	-	26	3668	c.3502C>T	c.(3502-3504)Ctt>Ttt	p.L1168F	HELZ_ENST00000580168.1_Missense_Mutation_p.L1169F	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGAGGTCCAAGAGGGGGTGGA	0.433000													27	37					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27596751	27596751	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27596751G>A	ENST00000233575.2	+	5	567	c.345G>A	c.(343-345)gaG>gaA	p.E115E	SNX17_ENST00000537606.1_Silent_p.E90E|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	115	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCACAGAGGAAGTGTCCT	0.537000													6	19					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3432004	3432004	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3432004G>A	ENST00000356575.4	-	6	918	c.692C>T	c.(691-693)cCc>cTc	p.P231L	MEGF6_ENST00000294599.4_Missense_Mutation_p.P126L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	231	EGF-like 3.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGGAACCCGGGCCGGCACTG	0.667000													14	12					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18848597	18848597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18848597G>A	ENST00000446231.2	-	46	7994	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	SMG1_ENST00000389467.3_Missense_Mutation_p.P2528S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2528					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTATGAGAAGGATGATCCACC	0.373000													42	106					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81320958	81320958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:81320958G>A	ENST00000258168.2	+	10	1822	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	BCMO1_ENST00000425577.2_Nonsense_Mutation_p.W385*	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	454					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACGACTGCTGGCCAGCGGAA	0.468000													29	56					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986676	44986676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44986676G>A	ENST00000296127.3	-	3	688	c.415C>T	c.(415-417)Cga>Tga	p.R139*	ZDHHC3_ENST00000424952.2_Nonsense_Mutation_p.R139*|ZDHHC3_ENST00000342790.4_Nonsense_Mutation_p.R173*	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	139						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TGGTGGGCTCGGTCGGGCTTG	0.582000													44	64					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297187	44297187	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44297187T>G	ENST00000329255.3	-	2	591	c.488A>C	c.(487-489)gAg>gCg	p.E163A		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	163					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TAACTCTGGCTCACCCAGGGA	0.582000													17	33					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784245	54784245	+	Silent	SNP	C	C	T	rs149204090	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54784245C>T	ENST00000218436.6	-	8	2291	c.2262G>A	c.(2260-2262)acG>acA	p.T754T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	754	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCCTGGAGTTCGTGGGTAATA	0.502000													75	85					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889053	76889053	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76889053C>T	ENST00000373344.5	-	18	5171		c.e18+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAATAAGTTACCTCAAGCTTC	0.279000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						34	57					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64521441	64521441	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64521441C>T	ENST00000164139.3	-	10	1547	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	PYGM_ENST00000377432.3_Silent_p.E295E	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	383					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTCCAGGGCCTCGGGCAGCA	0.647000													3	10					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229705	8229705	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:8229705C>T	ENST00000539824.1	+	12	2430	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S	SH3TC1_ENST00000245105.3_Missense_Mutation_p.P762S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	762							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCACAGCCTCCCTGCCCAAAC	0.692000													14	45					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52089869	52089869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52089869G>A	ENST00000495880.1	-	1	697	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	DUSP7_ENST00000296483.6_Nonsense_Mutation_p.Q121*			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	172	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor 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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCTCACCTTGGAGGTAGTAG	0.736000													8	12					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474493	73474493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:73474493G>A	ENST00000252034.7	+	24	1999	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	ELN_ENST00000358929.4_Missense_Mutation_p.V569M|ELN_ENST00000380576.5_Missense_Mutation_p.V515M|ELN_ENST00000357036.5_Missense_Mutation_p.V539M|ELN_ENST00000320492.7_Missense_Mutation_p.V453M|ELN_ENST00000458204.1_Missense_Mutation_p.V524M|ELN_ENST00000445912.1_Missense_Mutation_p.V534M|ELN_ENST00000380553.4_Missense_Mutation_p.V398M|ELN_ENST00000320399.6_Missense_Mutation_p.V534M|ELN_ENST00000414324.1_Missense_Mutation_p.V510M|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Missense_Mutation_p.V520M|ELN_ENST00000380562.4_Missense_Mutation_p.V540M|ELN_ENST00000380575.4_Missense_Mutation_p.V505M	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	563	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGCTGCCAAGGTGGCTGCCAA	0.642000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						64	77					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129171506	129171506	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129171506G>A	ENST00000540052.1	+	8	4514	c.4470G>A	c.(4468-4470)acG>acA	p.T1490T	BCORL1_ENST00000303743.5_Silent_p.T1564T|BCORL1_ENST00000218147.7_Silent_p.T1490T|BCORL1_ENST00000359304.2_Silent_p.T1360T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGACGGCACGAGGCAAGAGG	0.647000													33	63					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085509	92085509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92085509G>A	ENST00000298047.6	+	1	248	c.231G>A	c.(229-231)tgG>tgA	p.W77*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTATCCTGGGATATCAAAT	0.413000										TCGA Ovarian(4;0.039)			15	32					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956826	32956826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:32956826C>T	ENST00000399302.2	+	4	3970	c.3635C>T	c.(3634-3636)cCa>cTa	p.P1212L	QSER1_ENST00000527788.1_Missense_Mutation_p.P973L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1212										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTAACAGTCCATCAGATAAA	0.408000													66	93					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541289	28541289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28541289C>T	ENST00000452236.2	-	4	2994	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	793					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcaaagaattcttttggttgt	0.323000													25	16					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2979734	2979734	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2979734C>T	ENST00000399667.2	+	3	411	c.48C>T	c.(46-48)gcC>gcT	p.A16A	FLYWCH1_ENST00000416288.2_Silent_p.A16A|FLYWCH1_ENST00000253928.9_Silent_p.A16A			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	16						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GTGTGAAGGCCGGCCAGGAGC	0.697000													17	21					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906090	12906090	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12906090G>A	ENST00000380659.3	+	3	2602	c.2463G>A	c.(2461-2463)aaG>aaA	p.K821K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	821					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GAGCACACAAGGGCCAAAGTG	0.488000													58	107					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512502	35512502	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35512502C>T	ENST00000599564.1	+	15	1904	c.1833C>T	c.(1831-1833)caC>caT	p.H611H	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.H524H|GRAMD1A_ENST00000411896.2_Silent_p.H517H|GRAMD1A_ENST00000504615.2_Silent_p.H290H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	524						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTATTTCCACCATCTGGGTA	0.587000													23	53					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411592	126411592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126411592G>A	ENST00000394329.3	+	17	13628	c.13615G>A	c.(13615-13617)Gag>Aag	p.E4539K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2780K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4539					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						AAATCCCAAAGAGGAGAAGAA	0.527000													12	34					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003456	74003456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74003456G>A	ENST00000301607.3	-	22	6083	c.5830C>T	c.(5830-5832)Ctc>Ttc	p.L1944F	EVPL_ENST00000586740.1_Missense_Mutation_p.L1966F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1944	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCGATGAGCCCCCCGGTC	0.672000													28	35					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874385	24874385	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24874385C>T	ENST00000396432.2	-	26	5319	c.4833G>A	c.(4831-4833)gtG>gtA	p.V1611V		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1610	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTCTCTGCCACGGATTGCA	0.567000													39	49					0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2337938	2337938	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2337938C>A	ENST00000288774.3	-	5	984	c.957G>T	c.(955-957)gcG>gcT	p.A319A	PEX10_ENST00000447513.2_Silent_p.A299A|PEX10_ENST00000507596.1_Silent_p.A299A	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	299					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCTGCACCACGCGGTGATGC	0.667000													16	35					3.51602e-12	3.56078e-12	1	1	0
RSF1	51773	broad.mit.edu	37	11	77412960	77412960	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:77412960C>T	ENST00000308488.6	-	6	1616	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	RSF1_ENST00000480887.1_Silent_p.G186G|RSF1_ENST00000360355.2_Silent_p.G407G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	438					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGCTGTTTCCCTTCATGAC	0.363000													23	48					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127569372	127569372	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:127569372C>T	ENST00000354725.3	+	15	1853	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	553	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTATCACCTTCTTGCTTGCAG	0.473000													67	144					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469725	10469725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10469725G>A	ENST00000382483.3	-	4	2106	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	628					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGTGGAAGGGGTGGAAGA	0.667000													32	39					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42310477	42310477	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:42310477C>T	ENST00000217026.4	+	3	295	c.168C>T	c.(166-168)ttC>ttT	p.F56F	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	56	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGAAGTTCCTGGCCAGCC	0.602000													20	41					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027517	2027517	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:2027517G>A	ENST00000382722.5	-	1	485	c.123C>T	c.(121-123)ccC>ccT	p.P41P	CACNA2D4_ENST00000585732.1_Silent_p.P41P|CACNA2D4_ENST00000587995.1_Silent_p.P41P|CACNA2D4_ENST00000586184.1_Silent_p.P41P|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	41						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCAGGCCACGGGCATTGGCT	0.652000													14	4					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34887238	34887238	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:34887238C>T	ENST00000415930.3	+	13	1298	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	GPI_ENST00000586425.1_Silent_p.T365T|GPI_ENST00000356487.5_Silent_p.T365T	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	365					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AATACATCACCAAATCTGGAA	0.493000													30	56					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18848596	18848596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18848596G>A	ENST00000446231.2	-	46	7995	c.7583C>T	c.(7582-7584)cCt>cTt	p.P2528L	SMG1_ENST00000389467.3_Missense_Mutation_p.P2528L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2528					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTATGAGAAGGATGATCCAC	0.373000													41	105					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	56001072	56001072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:56001072T>G	ENST00000456986.1	+	12	1250	c.650T>G	c.(649-651)tTg>tGg	p.L217W	NEDD4L_ENST00000456173.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L338W|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L217W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L330W|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L338W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L338W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L330W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L338W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000589054.1_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	338	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCCTCAAGGTTGAGGTCATGC	0.433000													8	29					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70358436	70358436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:70358436C>T	ENST00000558939.1	-	7	1871	c.494G>A	c.(493-495)gGg>gAg	p.G165E	TLE3_ENST00000559048.1_Missense_Mutation_p.G170E|TLE3_ENST00000440567.3_Missense_Mutation_p.G158E|TLE3_ENST00000557907.1_Missense_Mutation_p.G165E|TLE3_ENST00000560939.1_Missense_Mutation_p.G170E|TLE3_ENST00000559929.1_Missense_Mutation_p.G175E|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.G165E|TLE3_ENST00000539550.1_Missense_Mutation_p.G109E|TLE3_ENST00000451782.2_Missense_Mutation_p.G165E|TLE3_ENST00000560589.1_Missense_Mutation_p.G109E|TLE3_ENST00000442299.2_Missense_Mutation_p.G165E|TLE3_ENST00000558201.1_Missense_Mutation_p.G171E|TLE3_ENST00000557997.1_Missense_Mutation_p.G165E|TLE3_ENST00000558379.1_Missense_Mutation_p.G165E			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	165	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCAGCAGCCCGGAGCTGCT	0.672000													11	26					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38871527	38871527	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:38871527G>A	ENST00000487273.2	+	4	376	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ADAM9_ENST00000481513.1_Missense_Mutation_p.E100K|ADAM9_ENST00000466936.1_Missense_Mutation_p.E100K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	100				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTACAACAAGGAAGGGACTTT	0.303000													42	55					0	0	1	0	0
TMEM97	27346	broad.mit.edu	37	17	26653748	26653748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26653748C>T	ENST00000226230.6	+	3	605	c.460C>T	c.(460-462)Cca>Tca	p.P154S	TMEM97_ENST00000583381.1_Missense_Mutation_p.P47S|TMEM97_ENST00000336687.6_Missense_Mutation_p.P47S	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	154					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTACTCATCCCATTCATACT	0.428000													18	25					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138178864	138178864	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:138178864C>T	ENST00000389567.4	+	6	912	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ESYT3_ENST00000289135.4_Silent_p.F242F	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	242						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGTGTTCTTCCTTCAGAAGC	0.607000													15	29					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29621205	29621205	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29621205G>A	ENST00000334018.6	+	4	591	c.403_splice	c.e4+1	p.G135_splice	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Splice_Site_p.G135_splice|EMID1_ENST00000404820.3_Splice_Site_p.G135_splice	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	133						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGCCTTCTCAGGTGGGTCCTG	0.622000													23	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633554	179633554	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179633554C>T	ENST00000589042.1	-	38	9233	c.9009G>A	c.(9007-9009)aaG>aaA	p.K3003K	TTN_ENST00000342992.6_Silent_p.K3003K|TTN_ENST00000591111.1_Silent_p.K3003K|TTN_ENST00000359218.5_Silent_p.K2957K|TTN_ENST00000360870.5_Silent_p.K3003K|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000460472.2_Silent_p.K2957K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2742	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACACCATTCTTTAACCATT	0.403000													19	40					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117465256	117465256	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:117465256T>C	ENST00000455858.2	+	10	1474	c.1401T>C	c.(1399-1401)ccT>ccC	p.P467P	FBXW8_ENST00000309909.5_Silent_p.P533P	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	533							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCAACGTGCCTTACCAGACGG	0.587000													20	46					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49127085	49127085	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49127085G>A	ENST00000055335.6	+	1	769	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	251	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTTTGCTGAGGGCGCGGGCG	0.701000													12	20					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888244	7888244	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7888244T>C	ENST00000332175.8	+	3	1374	c.337T>C	c.(337-339)Tta>Cta	p.L113L	PTPRM_ENST00000400053.4_Silent_p.L51L|PTPRM_ENST00000400060.4_Silent_p.L113L|PTPRM_ENST00000580170.1_Silent_p.L113L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	113	MAM.				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)				TCCTCCGGGGTTACTCAATGT	0.483000													30	56					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43612121	43612121	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43612121G>A	ENST00000355710.3	+	12	2458	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	RET_ENST00000340058.5_Silent_p.T742T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	742	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCAAGGCAACGGCCTTCCATC	0.537000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				76	118					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79955510	79955510	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79955510C>T	ENST00000373275.4	-	25	3105	c.2889G>A	c.(2887-2889)tcG>tcA	p.S963S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	963										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTATATTTTCGATTTCCTTA	0.348000													12	27					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039875	166039875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:166039875T>C	ENST00000338353.3	-	3	978	c.389A>G	c.(388-390)aAg>aGg	p.K130R	FAM78B_ENST00000354422.3_Missense_Mutation_p.K130R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	130										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCTGGAGATCTTGTTGGTGGG	0.532000													19	55					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748415	30748415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:30748415C>T	ENST00000263056.1	+	8	1954	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	MAP3K8_ENST00000542547.1_Missense_Mutation_p.P420S|MAP3K8_ENST00000375321.1_Missense_Mutation_p.P420S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	420			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GCTGGAACTTCCTGAGAACAT	0.552000													19	37					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161275697	161275697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161275697C>T	ENST00000533357.1	-	6	782	c.716G>A	c.(715-717)gGg>gAg	p.G239E	MPZ_ENST00000491222.2_Missense_Mutation_p.G43E|MPZ_ENST00000360451.6_Missense_Mutation_p.G249E|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.G239S	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	239					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCCCCAGCCCCTTGGCCTT	0.617000													25	43					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80376019	80376019	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:80376019G>A	ENST00000265080.4	+	6	1034	c.967_splice	c.e6+1	p.A323_splice	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	323	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTTAATTTTAGGTAAGTGCAT	0.328000													30	41					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038132	75038132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:75038132C>T	ENST00000326665.5	-	14	3480	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1088	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						GCATCTTCATCCTTGAGTGCA	0.438000													50	64					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20229530	20229530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20229530G>A	ENST00000043402.7	-	2	1564	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	376					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					ATGTGCCGTGGGCCAGAGCCG	0.682000													21	41					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284021	159284021	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:159284021G>A	ENST00000332217.5	-	1	428	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAGTTGGATACAGGCCC	0.517000													19	33					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046585	42046585	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42046585G>A	ENST00000220809.4	-	4	376	c.120C>T	c.(118-120)atC>atT	p.I40I	PLAT_ENST00000270189.6_Silent_p.I40I|PLAT_ENST00000519510.1_Silent_p.I40I|PLAT_ENST00000524009.1_Silent_p.I40I|PLAT_ENST00000429710.2_Silent_p.I40I|PLAT_ENST00000429089.2_Silent_p.I40I|PLAT_ENST00000352041.3_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	40	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CATCTCTGCAGATCACTATGA	0.473000													57	63					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803120	141803120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141803120C>T	ENST00000475668.2	+	70	8119	c.8065C>T	c.(8065-8067)Cct>Tct	p.P2689S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1793S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1793					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTACAAATCCTTTGAAACT	0.393000													6	17					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48166642	48166642	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:48166642G>A	ENST00000244043.4	-	2	188	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	53					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCCTCGTGAGGAAGCTGGCAG	0.572000													44	51					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252318	124252318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124252318G>A	ENST00000375013.2	-	1	940	c.922C>T	c.(922-924)Cag>Tag	p.Q308*		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTCTCCTCTGAATTTTAATC	0.338000													19	44					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32829353	32829353	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32829353G>A	ENST00000373534.3	+	2	808	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	101	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACTGCGTGCTGAATGGGGGGC	0.607000													45	55					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43078459	43078459	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43078459G>A	ENST00000486187.1	-	0	523							Q06732	ZN33B_HUMAN	zinc finger protein 33B							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAAGAAGGGAAGGCCATTG	0.512000													4	11					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763321	102763321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102763321C>T	ENST00000370220.1	+	2	3529	c.466C>T	c.(466-468)Cga>Tga	p.R156*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R156*			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	156	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCCCAAACCTCGAGGGGCTCC	0.622000													48	73					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531550	92531550	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92531550T>C	ENST00000298047.6	+	9	5388	c.5371T>C	c.(5371-5373)Ttg>Ctg	p.L1791L	FAT3_ENST00000525166.1_Silent_p.L1641L|FAT3_ENST00000409404.2_Silent_p.L1791L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1791	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCAGGAGCTTGGATAACAG	0.438000										TCGA Ovarian(4;0.039)			11	11					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41865995	41865995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41865995C>T	ENST00000263798.3	+	18	2488	c.2264C>T	c.(2263-2265)cCg>cTg	p.P755L	TYRO3_ENST00000559066.1_Missense_Mutation_p.P710L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	755	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACAGCCTCCGGAGTGTATG	0.547000													39	74					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273918	44273918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44273918C>T	ENST00000262888.3	-	5	1278	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	295	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	ACGTGCTTCTCTGCCTTGTTA	0.577000													43	69					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47290723	47290723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47290723C>T	ENST00000542575.2	-	1	1128	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	167					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GCCCGCGGCTCCCACGGAGGC	0.692000													4	6					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123019327	123019327	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123019327C>T	ENST00000333479.7	+	3	423	c.246C>T	c.(244-246)gtC>gtT	p.V82V	KNTC1_ENST00000450485.2_Silent_p.V82V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	82					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCATCTTGTCTTTGGTAAGT	0.363000													12	22					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455995	76455995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76455995C>T	ENST00000389840.5	-	60	9606	c.9482G>A	c.(9481-9483)gGg>gAg	p.G3161E	DNAH17_ENST00000585328.1_Missense_Mutation_p.G3170E|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGCCCCCAGGTGCGGT	0.572000													24	34					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668314	53668314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53668314G>A	ENST00000600412.1	-	2	1349	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	ZNF665_ENST00000396424.3_Missense_Mutation_p.R477W			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCCCCGATGACTTGCA	0.423000													27	49					0	0	1	0	0
MXRA7	439921	broad.mit.edu	37	17	74679983	74679983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74679983G>A	ENST00000375036.2	-	4	584	c.527C>T	c.(526-528)tCc>tTc	p.S176F	MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Missense_Mutation_p.S21F|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TTGCTACAGGGAAGTGAGGTC	0.498000													18	61					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163677	47163677	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47163677T>A	ENST00000409792.3	-	3	2491	c.2449A>T	c.(2449-2451)Atg>Ttg	p.M817L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATCTTCATAACTGAAGGC	0.333000			"""N, F, S, Mis"""		clear cell renal carcinoma								26	35					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32085227	32085227	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32085227C>T	ENST00000403528.2	+	4	679	c.294C>T	c.(292-294)atC>atT	p.I98I	HCRTR1_ENST00000373706.5_Silent_p.I98I|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Silent_p.I98I	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	98					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGACTGCTATCTGCCTGCCGG	0.597000													3	18					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372376	126372376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126372376C>T	ENST00000394329.3	+	9	10218	c.10205C>T	c.(10204-10206)cCc>cTc	p.P3402L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32.				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						AATGACCCACCCATTTTTACT	0.458000													36	94					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876800	38876800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38876800C>T	ENST00000334928.6	-	3	1234	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCAGCCCCGTTGAAGCGG	0.697000													3	8					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335218	78335218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:78335218G>A	ENST00000466548.1	+	7	1630	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	SLAIN1_ENST00000358679.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R316Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R158Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R393Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R316Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	535										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTGCCTCGAAGCAAAATT	0.463000													11	28					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64398030	64398030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64398030C>T	ENST00000265459.6	-	19	4062	c.3601G>A	c.(3601-3603)Ggg>Agg	p.G1201R	NRXN2_ENST00000301894.2_Missense_Mutation_p.G155R|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1201R|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1194R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1161R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1201	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGATCACCCCCACGGTGCCC	0.592000													11	30					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65409595	65409595	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:65409595A>T	ENST00000519389.1	+	6	1219	c.1040A>T	c.(1039-1041)cAc>cTc	p.H347L	HEPH_ENST00000374727.3_Missense_Mutation_p.H296L|HEPH_ENST00000343002.2_Missense_Mutation_p.H293L|HEPH_ENST00000336279.5_Missense_Mutation_p.H26L|HEPH_ENST00000419594.1_Missense_Mutation_p.H296L|HEPH_ENST00000441993.2_Missense_Mutation_p.H296L			Q9BQS7	HEPH_HUMAN	hephaestin	293	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTGGCCTGGCACTTGTTTGGC	0.443000													66	73					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995561	32995561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32995561G>A	ENST00000330953.5	+	2	815	c.647G>A	c.(646-648)gGg>gAg	p.G216E		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	216					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATCCCCTTAGGGATCATGCTG	0.468000													38	65					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032482	74032482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74032482C>T	ENST00000569673.1	-	3	1862	c.658G>A	c.(658-660)Gag>Aag	p.E220K	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.E220K			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	220										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGGCAGGCTCAGGGGGCAAG	0.637000													15	22					0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62084044	62084044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62084044G>A	ENST00000412356.1	-	3	362	c.8C>T	c.(7-9)tCt>tTt	p.S3F	ICAM2_ENST00000449662.2_Missense_Mutation_p.S3F|ICAM2_ENST00000578892.1_Missense_Mutation_p.S3F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.S3F|ICAM2_ENST00000579788.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578379.1_Intron|ICAM2_ENST00000418105.1_Missense_Mutation_p.S3F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	3					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GTAACCGAAAGAGGACATCTC	0.602000													17	27					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610115	47610115	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:47610115G>A	ENST00000371891.3	+	7	908	c.877G>A	c.(877-879)Gac>Aac	p.D293N	CYP4A22_ENST00000371890.3_Missense_Mutation_p.G241E|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D293N	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	293						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATTTTCTGGACATCCTCCT	0.502000													48	46					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100829876	100829876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:100829876C>T	ENST00000358544.2	+	45	8392	c.8281C>T	c.(8281-8283)Cat>Tat	p.H2761Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H2736Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2761					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)			AGTTCGGGAACATTTTGACTG	0.428000													28	56					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89312167	89312167	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:89312167C>A	ENST00000371996.4	+	5	1437	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.L265I|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	466					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CAAGGACATCCTTCAGAGTTG	0.358000													41	58					1.67305e-13	1.69743e-13	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7725001	7725001	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:7725001G>A	ENST00000303635.7	+	9	2601	c.2394G>A	c.(2392-2394)ggG>ggA	p.G798G	CAMTA1_ENST00000439411.2_Silent_p.G798G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGGTGTCGGGGGACAGCACGG	0.642000			T	WWTR1	epitheliod hemangioendothelioma								109	85					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123089936	123089936	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123089936C>T	ENST00000333479.7	+	51	5647	c.5470C>T	c.(5470-5472)Cta>Tta	p.L1824L	KNTC1_ENST00000537348.1_Silent_p.L249L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1824					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GGAAAAATGGCTATGCCCTTC	0.363000													8	9					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152957558	152957558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152957558G>A	ENST00000253122.5	+	4	1249	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SLC6A8_ENST00000430077.2_Missense_Mutation_p.G143E	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	258					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AAATCCACGGGAAAGGTACCA	0.632000													11	12					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990174	15990174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15990174G>A	ENST00000221700.5	-	12	1474	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	CYP4F2_ENST00000592328.1_Missense_Mutation_p.P460L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	460					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCGAGAAGGGAATAAAAGC	0.582000													59	108					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100074063	100074063	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:100074063T>A	ENST00000394140.3	+	10	873	c.782T>A	c.(781-783)tTt>tAt	p.F261Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	261	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ATCCCCGTTTTTAGACAGAAG	0.408000													22	28					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139160871	139160871	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139160871T>C	ENST00000395297.1	-	14	3510	c.3340A>G	c.(3340-3342)Agt>Ggt	p.S1114G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1114										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTAAGTCACTGTACAGAAAT	0.368000										HNSCC(54;0.14)			20	42					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975196	44975196	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:44975196T>A	ENST00000340446.4	-	1	1286	c.995A>T	c.(994-996)gAa>gTa	p.E332V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	332	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGCTGAATTTCAGCAGGAAA	0.522000													39	65					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008973	120008973	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120008973G>A	ENST00000371311.3	-	1	806	c.552C>T	c.(550-552)ggC>ggT	p.G184G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	184										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGAGGCCCTCGCCTTCTGGGG	0.706000													38	43					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256536	63256536	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:63256536C>A	ENST00000323865.3	-	1	1244	c.1011G>T	c.(1009-1011)ctG>ctT	p.L337L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	337					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCTCTCGGGCCAGGGCCATCT	0.602000													39	101					4.67007e-22	4.76855e-22	1	1	0
FMR1NB	158521	broad.mit.edu	37	X	147106430	147106430	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147106430G>A	ENST00000370467.3	+	5	752	c.678G>A	c.(676-678)acG>acA	p.T226T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	226						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)					GAGTTGTAACGGGTTTGAAGA	0.413000													30	81					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328429	48328429	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48328429A>G	ENST00000319988.1	+	1	655	c.655A>G	c.(655-657)Atc>Gtc	p.I219V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTATGTTATCATCTTACTGAA	0.478000													45	75					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594901	140594901	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140594901C>T	ENST00000341948.4	+	1	1393	c.1206C>T	c.(1204-1206)acC>acT	p.T402T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		402	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCCTACTAACGG	0.453000													34	57					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716489	153716489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153716489G>A	ENST00000263512.4	-	2	1289	c.791C>T	c.(790-792)tCg>tTg	p.S264L	SLC10A3_ENST00000369649.4_Missense_Mutation_p.S235L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S319L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.S264L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	264					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(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)					GCCGCCAGGCGACGAGCAGGT	0.622000													44	61					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936862	152936862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152936862C>T	ENST00000393831.2	-	7	995	c.561G>A	c.(559-561)atG>atA	p.M187I	PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000370145.4_Intron|PNCK_ENST00000370142.1_Missense_Mutation_p.M187I	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	179	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACGCAGCCATGCCGCTCA	0.642000													34	59					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968595	55968595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:55968595C>T	ENST00000263923.4	-	14	2363	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	690	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCCAGATGCCGTGCATGAG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			13	61					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62570986	62570986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:62570986G>A	ENST00000383710.4	-	8	1800	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	CADPS_ENST00000357948.3_Missense_Mutation_p.P484L|CADPS_ENST00000283269.9_Missense_Mutation_p.P484L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	484					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTCGGGGTGGGATGGAGAAT	0.428000													41	80					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431806	56431806	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56431806C>T	ENST00000302969.2	+	1	669	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488000													46	68					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808744	2808744	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2808744A>T	ENST00000520002.1	-	67	10651	c.10096T>A	c.(10096-10098)Tta>Ata	p.L3366I	CSMD1_ENST00000602723.1_Missense_Mutation_p.L3189I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3189I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3365I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L3366I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3188I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3366						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTCCCTAAATATTCATAA	0.468000													3	11					0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65297257	65297257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:65297257G>A	ENST00000220058.4	-	8	923	c.910C>T	c.(910-912)Cag>Tag	p.Q304*		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	304						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATAAGAGCCTGTCCCGTTAAT	0.299000													21	22					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316160	43316160	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43316160A>T	ENST00000361428.2	-	6	3051	c.2974T>A	c.(2974-2976)Tta>Ata	p.L992I	ZNF318_ENST00000318149.3_Missense_Mutation_p.L992I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	992					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTCACTTAAAGACTTCTGG	0.448000													40	111					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889507	23889507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23889507C>T	ENST00000532292.1	-	1	1668	c.1574G>A	c.(1573-1575)aGg>aAg	p.R525K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGATCCTCCCTGACACAGTT	0.443000													10	19					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42615901	42615901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:42615901C>T	ENST00000372899.1	+	22	2713	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	UBR2_ENST00000372901.1_Missense_Mutation_p.H819Y|UBR2_ENST00000372883.3_Missense_Mutation_p.H323Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	819					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGCAGTTGCCCATTTCAAGTG	0.353000													25	33					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29665123	29665123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:29665123G>A	ENST00000358273.4	+	45	7168	c.6785G>A	c.(6784-6786)gGg>gAg	p.G2262E	NF1_ENST00000356175.3_Missense_Mutation_p.G2241E|NF1_ENST00000444181.2_Missense_Mutation_p.G55E|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2262					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGTCTCATGGGCAGATAAAG	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			66	110					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642402	104642402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104642402G>A	ENST00000315264.7	+	11	3238	c.2860G>A	c.(2860-2862)Ggg>Agg	p.G954R	KIF26A_ENST00000423312.2_Missense_Mutation_p.G1093R			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1093					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCCCTGAGGGGGGGCCCCT	0.677000													3	4					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5842044	5842044	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:5842044C>T	ENST00000327087.8	-	14	1494		c.e14-1		ANO2_ENST00000546188.1_Intron|ANO2_ENST00000356134.5_Splice_Site|ANO2_ENST00000538154.1_Intron			Q9NQ90	ANO2_HUMAN	anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGGCACGTTCCTGGGGATAGC	0.488000													16	24					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519998	113519998	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:113519998G>A	ENST00000284601.3	-	4	1217	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	383					glycogen metabolic process	integral to membrane		p.S383S(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCCCTTTACGGAGCTTTCTG	0.398000													68	123					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	154896	154896	+	RNA	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154896A>T	ENST00000510175.1	+	0	331							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACCCAGAAAAAAACAATTCA	0.249000													3	8					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334273	50334273	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50334273G>A	ENST00000443842.1	-	2	1429	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	NAT6_ENST00000417393.1_Silent_p.L208L|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000354862.4_Silent_p.L230L|NAT6_ENST00000443094.2_Silent_p.L208L|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000450982.1_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)		GCATTAAGCAGGGTGGCAGGC	0.647000													12	36					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942755	45942755	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45942755G>A	ENST00000357632.2	+	3	655	c.475G>A	c.(475-477)Gag>Aag	p.E159K	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.E147K|CCR9_ENST00000355983.2_Missense_Mutation_p.E147K	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	159					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TACTTGGAGGGAGAAAAGGCT	0.468000													25	30					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590599	86590599	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:86590599A>C	ENST00000370571.2	-	3	1786	c.1420T>G	c.(1420-1422)Tat>Gat	p.Y474D	COL24A1_ENST00000436319.1_Missense_Mutation_p.Y474D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	474	Poly-Tyr.				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)		TCCTCATAATAATAATAATCA	0.343000													22	20					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036476	32036476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32036476C>T	ENST00000375244.3	-	17	6112	c.5911G>A	c.(5911-5913)Gag>Aag	p.E1971K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1971K			P22105	TENX_HUMAN	tenascin XB	2053	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTTCTCCTCCTCCGGGACT	0.632000													29	19					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260085	90260085	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:90260085G>A	ENST00000471857.1	+	0	369																											CAAAAACCAGGGAAAGCCCCT	0.502000													41	73					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739683	71739683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71739683G>A	ENST00000318442.5	-	5	2625	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAAAAAGAGGGGCCCCGCCG	0.493000													39	86					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130733106	130733106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:130733106C>T	ENST00000264992.3	-	6	2276	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.R637K|ATP2C1_ENST00000533801.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	612					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GGCATATGACCTTGTGGCATT	0.418000													22	34					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10558267	10558267	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10558267A>G	ENST00000583535.1	-	3	202	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	MYH3_ENST00000226209.7_Missense_Mutation_p.F39L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	39	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCACCACGAAGCAATACGTC	0.498000													68	111					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210777	166210777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166210777G>A	ENST00000357398.3	+	17	3285	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000375437.2_Missense_Mutation_p.E999K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	999					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E999K(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGATGATAACGAAATGAATAA	0.388000													85	139					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106311167	106311167	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106311167G>A	ENST00000390556.2	-	0	395																											CCTGTGTTACGGGTGGTGGCT	0.617000													2	2					0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106826888	106826888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106826888C>G	ENST00000222574.4	+	5	809	c.623C>G	c.(622-624)cCt>cGt	p.P208R	HBP1_ENST00000468410.1_Missense_Mutation_p.P208R|HBP1_ENST00000485846.1_Missense_Mutation_p.P208R	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	208	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AATTCCTGGCCTTCAACTGTC	0.388000													61	73					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22161620	22161620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22161620A>C	ENST00000356766.6	+	11	1416	c.1268A>C	c.(1267-1269)aAc>aCc	p.N423T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.N423T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.N423T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	423	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ACCCGATATAACAATCGTACC	0.393000													49	73					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92007925	92007925	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92007925G>A	ENST00000285419.3	-	7	1068	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	252						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTGTGTTCTGGATAACTGACT	0.403000													21	49					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595054	64595054	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64595054C>T	ENST00000342711.5	-	32	4094	c.4095G>A	c.(4093-4095)ctG>ctA	p.L1365L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1365	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGTAGAGGAACAGGGAGCCCT	0.682000													8	18					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924496	70924496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70924496G>A	ENST00000603540.1	+	2	538	c.280G>A	c.(280-282)Gat>Aat	p.D94N	ADAM21_ENST00000267499.3_Missense_Mutation_p.D94N|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	94					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CACCTACACAGATGACCGTGC	0.512000													8	121					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374335	6374335	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6374335G>A	ENST00000335585.5	-	5	563	c.540C>T	c.(538-540)tcC>tcT	p.S180S	PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.S163S|PPP2R2C_ENST00000507294.1_Silent_p.S173S|PPP2R2C_ENST00000382599.4_Silent_p.S180S|PPP2R2C_ENST00000506140.1_Silent_p.S173S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	180					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CACTGTTGACGGAGATGGAGT	0.572000													26	89					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309824	56309824	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56309824G>A	ENST00000528616.2	-	1	933	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTTCATCTCAGGACATTCTTC	0.383000													11	17					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547782	100547782	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100547782C>T	ENST00000372907.3	-	1	263	c.252G>A	c.(250-252)ggG>ggA	p.G84G	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	84					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACCTACCTTTCCCTTCCTGGA	0.532000													63	54					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670599	95670599	+	Missense_Mutation	SNP	G	G	A	rs140868681		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95670599G>A	ENST00000298912.4	-	9	1200	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	363						integral to membrane	actin binding	p.R363C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCATCCAGGCGGAATTCCTTC	0.542000													42	78					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44073226	44073226	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44073226C>T	ENST00000378832.1	+	5	785	c.729C>T	c.(727-729)tgC>tgT	p.C243C		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	243							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ATGGCTGCTGCTCTGTCTTCT	0.502000													71	125					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636095	44636095	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44636095A>T	ENST00000322734.2	+	3	743	c.410A>T	c.(409-411)aAa>aTa	p.K137I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TATGAATGTAAAGAGTGTGGG	0.458000													31	55					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304608	176304608	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176304608C>T	ENST00000329542.4	+	10	1813	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	UNC5A_ENST00000261961.3_Silent_p.T473T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	513	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGCTCACCCGGCCAGTCA	0.637000													15	37					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470969	25470969	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:25470969G>A	ENST00000264709.3	-	7	1129	c.792C>T	c.(790-792)ccC>ccT	p.P264P	DNMT3A_ENST00000321117.5_Silent_p.P264P|DNMT3A_ENST00000380746.4_Silent_p.P75P|DNMT3A_ENST00000402667.1_Silent_p.P41P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	264	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGACCCCACGGGCTCAGGCG	0.657000			"""Mis, F, N, S"""		AML								39	45					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123797116	123797116	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:123797116G>A	ENST00000223642.1	-	5	578	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	183					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAGGAAAAGAGATAATTCCAA	0.353000													14	6					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967228	81967228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:81967228G>A	ENST00000282701.2	+	2	973	c.653G>A	c.(652-654)gGa>gAa	p.G218E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	218					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTCCTCATAGGATTTAACATT	0.438000													73	51					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606101	39606101	+	Silent	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:39606101C>G	ENST00000432096.2	+	1	97	c.84C>G	c.(82-84)ctC>ctG	p.L28L	YAE1D1_ENST00000448268.1_Silent_p.L28L|YAE1D1_ENST00000223273.2_Silent_p.L28L			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	28																	ACGAGTCGCTCCTGGCGCAGC	0.587000													33	29					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423575	26423575	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:26423575G>A	ENST00000335473.7	+	43	7885	c.7635G>A	c.(7633-7635)cgG>cgA	p.R2545R	MYO18B_ENST00000407587.2_Silent_p.R2546R|MYO18B_ENST00000536101.1_Silent_p.R2545R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2545						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCCCGAGCGGAGAGAGCCAG	0.562000													10	21					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2951812	2951812	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2951812G>A	ENST00000396946.4	-	23	3541	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1046	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCACCTTGGCGGCCACAGCTT	0.602000			Mis		DLBCL								23	47					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67292323	67292323	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67292323C>T	ENST00000299798.11	+	10	1664	c.1599C>T	c.(1597-1599)atC>atT	p.I533I		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	533					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGCTTAACATCCGGGATGCCA	0.582000													18	33					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51696445	51696445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51696445C>T	ENST00000409535.1	+	22	3538	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S832F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1138						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCCCAGGTTCCCAGGGACCT	0.542000													25	43					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106734726	106734726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:106734726G>A	ENST00000299045.3	+	9	1439	c.1265G>A	c.(1264-1266)gGt>gAt	p.G422D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	422										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCTTATAGGTCAATTTTCA	0.373000													90	76					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41540981	41540981	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:41540981C>T	ENST00000402904.2	-	9	1226	c.858G>A	c.(856-858)aaG>aaA	p.K286K	SCMH1_ENST00000397174.2_Silent_p.K266K|SCMH1_ENST00000397171.2_Silent_p.K225K|SCMH1_ENST00000372595.1_Silent_p.K225K|SCMH1_ENST00000361191.5_Silent_p.K225K|SCMH1_ENST00000372596.1_Silent_p.K225K|SCMH1_ENST00000361705.3_Silent_p.K239K|SCMH1_ENST00000337495.5_Silent_p.K296K|SCMH1_ENST00000372597.1_Silent_p.K239K|SCMH1_ENST00000326197.7_Silent_p.K286K|SCMH1_ENST00000456518.2_Silent_p.K128K	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	286					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAATTAGGGTCTTGGGTGTCC	0.532000													64	54					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237890480	237890480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237890480C>T	ENST00000366574.2	+	76	11136	c.10819C>T	c.(10819-10821)Ccc>Tcc	p.P3607S	RYR2_ENST00000360064.6_Missense_Mutation_p.P3605S|RYR2_ENST00000542537.1_Missense_Mutation_p.P3591S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3607					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGGATGGCCCCCTTATATAA	0.398000													19	19					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24995059	24995059	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995059C>T	ENST00000261192.7	-	7	1300	c.774G>A	c.(772-774)gtG>gtA	p.V258V	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.V270V|BCAT1_ENST00000538118.1_Silent_p.V257V|BCAT1_ENST00000539780.1_Silent_p.V221V|BCAT1_ENST00000342945.5_Silent_p.V197V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	258					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCATAGTTCCCACTTCAGTGA	0.428000													5	24					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021865	120021865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:120021865C>T	ENST00000379551.2	+	3	664	c.307C>T	c.(307-309)Cct>Tct	p.P103S	PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000505123.1_Missense_Mutation_p.P56S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTT	0.512000													36	49					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517687	172517687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:172517687C>T	ENST00000540014.1	+	4	824	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	CREBRF_ENST00000296953.2_Missense_Mutation_p.P169S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P169S|CREBRF_ENST00000520420.1_Missense_Mutation_p.P169S			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	169							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AAATCCCTTACCCTCTTCATT	0.443000													14	34					0	0	1	0	0
NDUFB2	4708	broad.mit.edu	37	7	140402710	140402710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140402710C>T	ENST00000476279.1	+	2	217	c.143C>T	c.(142-144)cCc>cTc	p.P48L	NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P38L|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000247866.4_Missense_Mutation_p.P48L|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P48L|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P21L|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P36L|NDUFB2_ENST00000460088.1_5'UTR			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	48					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	AGACAGTTCCCCCAGCTGACC	0.532000													84	92					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438596	40438596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:40438596G>A	ENST00000381793.2	-	4	1588	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	RBM47_ENST00000381795.6_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L398F|RBM47_ENST00000514014.1_Missense_Mutation_p.L360F|RBM47_ENST00000319592.4_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	398						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TATCCCCCGAGGTAGGAACCC	0.493000													60	64					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000492	14000492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000492C>T	ENST00000454313.1	-	6	1235	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	C19orf57_ENST00000586783.1_Missense_Mutation_p.E393K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E393K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	393					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGTGGTTTCCCCAGTGAGC	0.672000													13	19					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421321	134421321	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:134421321C>T	ENST00000370766.3	-	7	3990	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	ZNF75D_ENST00000370764.1_Silent_p.G332G|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	427					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAAGCTTTTCCCACACCATG	0.373000													77	109					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635614	141635614	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141635614C>T	ENST00000546910.1	-	5	541	c.345_splice	c.e5+1	p.L115_splice	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Splice_Site_p.L92_splice|CLEC5A_ENST00000551012.2_Splice_Site_p.L92_splice	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	115	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTGTTCTCACCAGTTTCTCTG	0.478000													53	55					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106937929	106937929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:106937929G>A	ENST00000369701.3	+	14	2234	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493000													20	26					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959584	102959584	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:102959584A>C	ENST00000311734.2	+	7	1110	c.771A>C	c.(769-771)aaA>aaC	p.K257N	IL1RL1_ENST00000409584.1_Missense_Mutation_p.K243N|IL1RL1_ENST00000233954.1_Missense_Mutation_p.K257N|IL1RL1_ENST00000404917.2_Missense_Mutation_p.K140N			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	257	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATGGAACAAAAATTACAGACT	0.423000													41	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179544117	179544117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179544117C>T	ENST00000589042.1	-	142	33915	c.33691G>A	c.(33691-33693)Gag>Aag	p.E11231K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9987K|TTN_ENST00000591111.1_Missense_Mutation_p.E10914K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10914	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAACTTTCTCCTCTGGCTTC	0.378000													23	43					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144557717	144557717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144557717C>T	ENST00000262577.5	-	5	1785	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	585					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTTCCCACCCCCGCTGGCAAC	0.612000													7	12					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349152	26349152	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26349152G>A	ENST00000374280.3	+	1	882	c.15G>A	c.(13-15)agG>agA	p.R5R		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	5					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCGTGGAGGAGAAGAAAGT	0.647000													20	28					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85536504	85536504	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:85536504C>T	ENST00000282111.3	+	12	1961	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	562					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCCGTCCTTCCCCGCCACGC	0.701000													25	40					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65733747	65733747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65733747C>T	ENST00000253247.4	+	12	1457	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	NOL11_ENST00000535137.1_Missense_Mutation_p.P266S	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	448						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAAAGCAGAACCATCATTTTA	0.438000													35	110					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906091	12906091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12906091G>A	ENST00000380659.3	+	3	2603	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	822					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGCACACAAGGGCCAAAGTGT	0.483000													60	107					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586799	26586799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:26586799G>A	ENST00000436318.2	-	2	821	c.688C>T	c.(688-690)Cct>Tct	p.P230S	ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P230S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P203S|MUC15_ENST00000281268.8_Missense_Mutation_p.P230S|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P230S			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	203						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TCTTGATAAGGGGTAAACCCA	0.398000													29	67					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510594	26510594	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26510594G>A	ENST00000531191.1	+	9	1121	c.114G>A	c.(112-114)caG>caA	p.Q38Q	CNKSR1_ENST00000374253.5_Silent_p.Q303Q|CNKSR1_ENST00000361530.6_Silent_p.Q296Q			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	303	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGCACCAGAGGAGCCCAT	0.617000													17	51					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27596752	27596752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27596752G>A	ENST00000233575.2	+	5	568	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SNX17_ENST00000537606.1_Missense_Mutation_p.E91K|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	116	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACAGAGGAAGTGTCCTT	0.537000													6	19					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341306	14341306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:14341306C>T	ENST00000571589.1	+	12	2361	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.S719F|MKL2_ENST00000574045.1_Intron	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	719	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCCAGTGTCCATCCAGGGC	0.552000													4	9					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944467	23944467	+	Missense_Mutation	SNP	G	G	A	rs147692634	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23944467G>A	ENST00000397154.3	+	4	245	c.232G>A	c.(232-234)Gga>Aga	p.G78R	NGDN_ENST00000408901.3_Missense_Mutation_p.G78R			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	78	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCTCAGGAGGATCTCTTCA	0.458000													34	56					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897329	38897329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:38897329G>A	ENST00000359357.3	+	73	10764	c.10510G>A	c.(10510-10512)Gac>Aac	p.D3504N	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3468N|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3721N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACTTGGAGGACAGCCTTTC	0.408000													47	32					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199306	155199306	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155199306G>A	ENST00000460012.1	-	23	4776	c.4419C>T	c.(4417-4419)taC>taT	p.Y1473Y	PLCH1_ENST00000414191.1_Silent_p.Y1473Y|PLCH1_ENST00000334686.6_Silent_p.Y1473Y|PLCH1_ENST00000340059.7_Silent_p.Y1511Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1511					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAATACACTGGTACTTGCTCT	0.453000													25	38					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76200817	76200817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76200817C>T	ENST00000409257.5	+	5	443	c.389C>T	c.(388-390)cCc>cTc	p.P130L	AFMID_ENST00000589664.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.P130L|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	130						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGCATCGCCCCCAAAGGTAAT	0.592000													13	27					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25655811	25655811	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:25655811T>G	ENST00000376436.1	-	4	2652	c.2113A>C	c.(2113-2115)Aga>Cga	p.R705R	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.R705R|ZNF337_ENST00000538750.1_Silent_p.R673R					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTGTATTCTTTCATGCACA	0.453000													62	107					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746855	158746855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158746855C>T	ENST00000339258.1	-	1	570	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCAGATGTGTCCTTGCAGGCC	0.418000													10	25					0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7841765	7841765	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:7841765C>T	ENST00000356708.7	+	5	538	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ATP5C1_ENST00000541227.1_Silent_p.F106F|ATP5C1_ENST00000335698.4_Silent_p.F153F|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	153					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGGTGGCATTCAAAGAAGTGG	0.428000													26	37					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43774667	43774667	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43774667C>T	ENST00000372476.3	+	8	1132	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	351					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCGGATCCCCCAGATCCTCA	0.597000													8	39					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513367	89513367	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:89513367G>A	ENST00000498435.1	-	0	46																											AGCTGAGCAGGGACCCTCATG	0.522000													26	54					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847469	88847469	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88847469G>A	ENST00000333190.4	+	2	718	c.108_splice	c.e2-1	p.D37_splice		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	37						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTTAAAGGATTTTGCAGA	0.348000										HNSCC(36;0.09)			24	39					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438000													25	61					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688598	26688598	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:26688598C>T	ENST00000529632.2	+	2	517	c.321C>T	c.(319-321)gcC>gcT	p.A107A	SEZ6L_ENST00000404234.3_Silent_p.A107A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Silent_p.A107A|SEZ6L_ENST00000343706.4_Silent_p.A107A|SEZ6L_ENST00000360929.3_Silent_p.A107A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	107						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGAGGAGGCCCGCCCCAAGC	0.652000													13	16					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109690903	109690903	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	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)	CCCACATCACCGTGCCAGATG	0.512000													76	207					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73945810	73945810	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73945810G>A	ENST00000537812.1	-	10	2001	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	ACOX1_ENST00000301608.4_Silent_p.L489L|ACOX1_ENST00000293217.5_Silent_p.L489L	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	489					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TGGCTGCACGGAGTTTATATG	0.557000													23	41					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819235	45819235	+	Missense_Mutation	SNP	C	C	T	rs139554968		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45819235C>T	ENST00000397928.1	+	14	2564	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R707C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R687C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R707C	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	707						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTGCTCACCCGCGTGTCCGA	0.622000													33	18					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147226	55147226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:55147226G>A	ENST00000370862.3	+	7	1645	c.1309G>A	c.(1309-1311)Gga>Aga	p.G437R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	437					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGCCAATGGAGCAGGACC	0.383000													9	16					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001352	109001352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109001352C>T	ENST00000276659.5	-	3	835	c.215G>A	c.(214-216)gGa>gAa	p.G72E	RSPO2_ENST00000517939.1_Missense_Mutation_p.G5E|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	72					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAGGCACTCTCCATACTGGCG	0.478000													31	40					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70389887	70389887	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70389887C>T	ENST00000374051.3	+	7	2749	c.2427C>T	c.(2425-2427)acC>acT	p.T809T	NLGN3_ENST00000536169.1_Silent_p.T789T|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.T829T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	829					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTATAACACCTTTGCCGCAG	0.592000													23	13					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072675	197072675	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:197072675C>T	ENST00000367409.4	-	18	5962	c.5706G>A	c.(5704-5706)ttG>ttA	p.L1902L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1902	IQ 10.|IQ 11.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGAATCTTCAAGGCAGCTT	0.433000													39	32					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658584	210658584	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:210658584G>A	ENST00000439458.1	+	7	1018		c.e7+1		UNC80_ENST00000478701.1_Splice_Site|UNC80_ENST00000272845.5_Splice_Site	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)							integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CACATTCCAGGTACCTGATTG	0.438000													22	15					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783921	54783921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54783921G>A	ENST00000391748.1	-	4	207	c.80C>T	c.(79-81)cCc>cTc	p.P27L	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.P27L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P27L|LILRB2_ENST00000391746.1_Missense_Mutation_p.P27L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTTGGGAATGGTCCC	0.577000													49	74					0	0	1	0	0
SLC35E2	9906	broad.mit.edu	37	1	1663930	1663930	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1663930G>A	ENST00000246421.4	-	6	1180	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000355439.2_Intron	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	255						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCGCCATGGACAAGGCGA	0.607000													6	11					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50335577	50335577	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50335577C>T	ENST00000312865.6	+	13	1440	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	MED25_ENST00000538643.1_Missense_Mutation_p.P250S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	463	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACCCTGGGCCCTTTGTTCCG	0.607000													5	9					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895700	16895700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16895700G>A	ENST00000430580.2	-	23	3369	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	828	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTCCTGGGGGACTTCCTCC	0.478000													24	297					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646673	80646673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80646673G>T	ENST00000466387.1	+	13	1961	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	413					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATGAAAAGGAAGTGAAAGA	0.453000													29	53					9.39395e-14	9.53377e-14	1	1	0
C8orf31	286122	broad.mit.edu	37	8	144124661	144124661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144124661G>A	ENST00000395172.1	+	3	520	c.168G>A	c.(166-168)tgG>tgA	p.W56*	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	56										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAGAGATCTGGGAGTCCACAA	0.607000													8	13					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366679	248366679	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248366679T>G	ENST00000456743.1	+	1	348	c.310T>G	c.(310-312)Tat>Gat	p.Y104D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTTTCTTCTATACATCACT	0.478000													220	70					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524307	51524307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51524307C>T	ENST00000371117.3	-	61	10892	c.10617G>A	c.(10615-10617)atG>atA	p.M3539I		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3539					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGGTTATCCATGATGTTGA	0.443000													9	31					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29533322	29533322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:29533322G>A	ENST00000373791.3	-	4	646	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.P168S	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	168					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTGTGCAGGGATTGACACCC	0.602000													15	46					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225624	9225624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:9225624C>T	ENST00000328194.3	-	4	852	c.532G>A	c.(532-534)Gag>Aag	p.E178K	DENND5A_ENST00000530044.1_Missense_Mutation_p.E178K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	178										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCATCCTCCATGCTGCTC	0.522000													26	34					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535389	24535389	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24535389C>T	ENST00000264463.4	-	5	1154		c.e5-1			NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGATGATACCTTGAGAAAAT	0.368000										HNSCC(23;0.051)			17	36					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73539197	73539197	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:73539197C>T	ENST00000224721.6	+	40	5381	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1787	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGATGGAGACCCTCTGGGTG	0.632000													6	16					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125435019	125435019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125435019G>A	ENST00000308736.2	-	23	3159	c.3061C>T	c.(3061-3063)Cca>Tca	p.P1021S	DHX37_ENST00000544745.1_Missense_Mutation_p.P808S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1021							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTAGGGGCTGGTTCCTCCAGG	0.672000													10	44					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279294	74279294	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74279294T>C	ENST00000295897.4	+	8	1090	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V184A|ALB_ENST00000509063.1_Missense_Mutation_p.V334A|ALB_ENST00000415165.2_Missense_Mutation_p.V142A|ALB_ENST00000401494.3_Missense_Mutation_p.V219A	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	334	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTGATTTTGTTGAAAGTAAG	0.403000													39	42					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440200	104440200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:104440200G>A	ENST00000372582.1	+	3	882	c.126G>A	c.(124-126)atG>atA	p.M42I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M42I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	42	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGACATACATGGCTTTGGCAG	0.453000													59	54					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38640845	38640845	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38640845C>T	ENST00000254051.6	-	6	1550	c.1392G>A	c.(1390-1392)agG>agA	p.R464R		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	464	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCCTCCTTCCTCAGCAGCT	0.597000													21	38					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353151	105353151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105353151C>T	ENST00000453495.1	+	12	2806	c.2578C>T	c.(2578-2580)Cct>Tct	p.P860S	CEP170B_ENST00000556508.1_Missense_Mutation_p.P789S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P859S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P789S					centrosomal protein 170B																		ACCCGACGGCCCTGCCCCAGC	0.667000													21	35					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43831035	43831035	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:43831035G>A	ENST00000417669.1	+	3	750	c.306G>A	c.(304-306)acG>acA	p.T102T	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.T135T|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000542779.1_Silent_p.T102T|MPPED1_ENST00000443721.1_Silent_p.T102T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	102							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ACTCGAGGACGGACCCCATCC	0.632000													35	83					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3606980	3606980	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3606980G>A	ENST00000301749.7	-	0	2520				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGTCCAATGGAGTTACCGC	0.552000													15	21					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705882	41705882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:41705882G>A	ENST00000379485.1	-	1	1000	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	256							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCAGCACTGGGACCCCGCTCT	0.572000													26	57					0	0	1	0	0
RP3-331H24.5	0	broad.mit.edu	37	6	72113281	72113281	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72113281C>T	ENST00000602823.1	-	0	267				MIR30A_ENST00000385092.1_RNA																							ACTGAAAGCCCATCTGTGGCT	0.453000													5	7					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953442	38953442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38953442T>C	ENST00000306658.7	-	4	847	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	261	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCTCGCATGTTGTTCAACAA	0.622000													44	62					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856006	90856006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:90856006G>A	ENST00000394980.1	+	7	1494	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	MMRN1_ENST00000264790.2_Missense_Mutation_p.R392K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.R134K			Q13201	MMRN1_HUMAN	multimerin 1	392					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACATAGTAAGAGAACAATTT	0.318000													32	45					0	0	1	0	0
ATP5G1	516	broad.mit.edu	37	17	46972537	46972537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46972537C>T	ENST00000393366.2	+	4	240	c.137C>T	c.(136-138)cCa>cTa	p.P46L	ATP5G1_ENST00000503641.1_Intron|ATP5G1_ENST00000355938.5_Missense_Mutation_p.P46L|ATP5G1_ENST00000506855.1_Missense_Mutation_p.P20L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000514808.1_Missense_Mutation_p.P46L|ATP5G1_ENST00000513781.1_3'UTR	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	46					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			liver(1)|lung(1)	2						AGCAACTTCCCACTCCAGGTG	0.547000													31	35					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74277801	74277801	+	Missense_Mutation	SNP	G	G	A	rs78340021		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74277801G>A	ENST00000295897.4	+	7	891	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.E118K|ALB_ENST00000509063.1_Missense_Mutation_p.E268K|ALB_ENST00000415165.2_Missense_Mutation_p.E76K|ALB_ENST00000401494.3_Missense_Mutation_p.E153K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	268	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V265fs*8(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTCCACACGGAATGCTGCCA	0.453000													36	45					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512503	35512503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35512503C>T	ENST00000599564.1	+	15	1905	c.1834C>T	c.(1834-1836)Cat>Tat	p.H612Y	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.H525Y|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.H518Y|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.H291Y			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	525						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTATTTCCACCATCTGGGTAG	0.587000													23	52					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105612755	105612755	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105612755G>A	ENST00000331782.3	-	22	3079	c.2676C>T	c.(2674-2676)tgC>tgT	p.C892C	JAG2_ENST00000347004.2_Silent_p.C854C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	892	VWFC.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAGGCAGCGGCAGCTGTTGC	0.677000													32	63					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185278582	185278582	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:185278582A>G	ENST00000367498.3	-	3	666	c.44T>C	c.(43-45)aTt>aCt	p.I15T	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I15T	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	15					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAAGACTCAATAAAATTTTC	0.308000													24	35					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67283999	67283999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:67283999G>A	ENST00000355520.5	-	21	2496	c.1855C>T	c.(1855-1857)Ccg>Tcg	p.P619S	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	619					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTACCATTCGGTGTTTGATGT	0.423000													59	88					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102739907	102739907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102739907G>A	ENST00000210633.3	+	10	1235	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	SEMA4G_ENST00000370250.4_Missense_Mutation_p.G386D|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G386D|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	386	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCAGCCAAGGCTACAATTCA	0.602000													25	29					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96030264	96030264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96030264C>T	ENST00000260766.3	+	18	5045	c.4411C>T	c.(4411-4413)Cgc>Tgc	p.R1471C	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1163C|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1163C|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1471C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1471	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCCATTGATCGCAGTGCCTT	0.448000													32	66					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51751940	51751940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51751940G>A	ENST00000371117.3	-	44	7375	c.7100C>T	c.(7099-7101)tCt>tTt	p.S2367F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2367F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2367					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGGTACAAGAATGTGCAAT	0.413000													11	40					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114267236	114267236	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:114267236G>A	ENST00000519065.1	-	9	1294	c.918C>T	c.(916-918)atC>atT	p.I306I	HDAC2_ENST00000398283.2_Silent_p.I400I|HDAC2_ENST00000519108.1_Silent_p.I276I|HDAC2_ENST00000368632.2_Silent_p.I276I			Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CAACATTACGGATTGTGTAGC	0.378000													51	38					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606909	95606909	+	Silent	SNP	G	G	A	rs150145925		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:95606909G>A	ENST00000324972.6	+	7	820	c.627G>A	c.(625-627)aaG>aaA	p.K209K	DYNC1I1_ENST00000437599.1_Silent_p.K189K|DYNC1I1_ENST00000447467.2_Silent_p.K192K|DYNC1I1_ENST00000457059.1_Silent_p.K192K|DYNC1I1_ENST00000537881.1_Silent_p.K172K|DYNC1I1_ENST00000359388.4_Silent_p.K172K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	209					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGAAGTGAAGGAAGGTATGA	0.328000													21	24					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99956598	99956598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:99956598C>T	ENST00000372981.1	-	3	368	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	SYTL4_ENST00000372989.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61Q|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61Q			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	61	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCACAGGTCCGATCACTGTA	0.537000													47	70					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109560968	109560968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:109560968G>A	ENST00000262844.5	-	1	499	c.332C>T	c.(331-333)tCg>tTg	p.S111L	AMMECR1_ENST00000496695.1_5'UTR|AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.S111L	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	111	Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGGCGGACGATGAGGAGGG	0.657000													9	8					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436842	436842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:436842G>A	ENST00000338977.5	-	2	1426	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.P472S|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CATTTGTAGGGTTTCTTTCCA	0.368000													7	19					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126681372	126681372	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126681372G>A	ENST00000309035.6	-	8	2799	c.2669C>T	c.(2668-2670)cCa>cTa	p.P890L	CTBP2_ENST00000334808.6_Missense_Mutation_p.P418L|CTBP2_ENST00000494626.2_Missense_Mutation_p.P350L|CTBP2_ENST00000531469.1_Missense_Mutation_p.P350L|CTBP2_ENST00000411419.2_Missense_Mutation_p.P350L|CTBP2_ENST00000337195.5_Missense_Mutation_p.P350L	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	350					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TAAGCTTTCTGGGATGCGACC	0.383000											OREG0020609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133403028	133403028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133403028G>A	ENST00000329321.3	+	2	1680	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	404						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAAGGAGAACTGAGAAG	0.602000													18	53					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167301368	167301368	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:167301368G>A	ENST00000409855.1	-	12	1656	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	510					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATGATAAGGAAAAGATCAG	0.333000													7	13					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315195	12315195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:12315195G>A	ENST00000256186.2	+	3	508	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	73	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CGTAGCCCAAGGAGCACCCAG	0.587000													56	110					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	rs117218570	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557000													41	64					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984392	85984392	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85984392G>A	ENST00000372113.4	-	2	594	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	LRIT2_ENST00000538192.1_Silent_p.L197L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	197						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGTCATGCAGGGCCACCACC	0.547000													21	37					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898282	47898282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47898282C>T	ENST00000289672.2	-	27	4401	c.4351G>A	c.(4351-4353)Gat>Aat	p.D1451N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1451	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACAATAAATCTGAGATGACT	0.388000													34	75					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560857	9560857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:9560857G>A	ENST00000378429.3	-	5	1471	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	309	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGTGTCCTTGGGGATGGGTT	0.552000													58	130					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170150732	170150732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:170150732C>T	ENST00000263816.3	-	6	863	c.578G>A	c.(577-579)gGa>gAa	p.G193E	LRP2_ENST00000443831.1_Missense_Mutation_p.G193E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	193	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATACACTCTCCATTGCCACA	0.433000													45	63					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039700	2039700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:2039700C>T	ENST00000382203.1	+	4	799	c.590C>T	c.(589-591)cCc>cTc	p.P197L	SMARCA2_ENST00000349721.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P197L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	197					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGAGGCCAGCCCCTCCCCGAA	0.577000													42	8					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599806	29599806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29599806G>A	ENST00000431530.3	+	1	1059	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	324						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAACAGGAGGGAAAGGCAGCC	0.532000													19	31					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012688	57012688	+	Missense_Mutation	SNP	C	C	T	rs143895065	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:57012688C>T	ENST00000370706.4	+	10	2049	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATAGTTCTCCGAGGGGTAAA	0.408000													50	55					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658596	46658596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:46658596G>A	ENST00000544460.1	+	1	2985	c.2731G>A	c.(2731-2733)Gat>Aat	p.D911N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D911N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	911					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)			TGAATTTATAGATAATGCATG	0.333000													40	34					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962942	94962942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94962942C>T	ENST00000341228.2	-	4	1468	c.673G>A	c.(673-675)Gag>Aag	p.E225K	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E225K	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	225					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAATCTTCCTCTTTAGTTACA	0.403000													27	51					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178233	153178233	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153178233A>T	ENST00000370028.3	-	13	1640	c.1583T>A	c.(1582-1584)tTc>tAc	p.F528Y	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.F465Y|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.F310Y|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.F488Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.F467Y	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	488	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTTCTGGAATTTTCTCTG	0.592000													63	88					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150704269	150704269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150704269G>A	ENST00000297494.3	+	17	2374	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	NOS3_ENST00000461406.1_Missense_Mutation_p.E467K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	673	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACGGCTGGAGGAACTGGGCGG	0.701000													37	82					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39376875	39376875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:39376875C>T	ENST00000320816.6	-	12	2481	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	DAB2_ENST00000339788.6_Missense_Mutation_p.E454K|DAB2_ENST00000545653.1_Missense_Mutation_p.E651K|DAB2_ENST00000509337.1_Missense_Mutation_p.E651K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	672	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAAGTCTGCTCTCCCTTCCGC	0.488000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	26					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46804277	46804277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46804277C>T	ENST00000290295.7	-	2	1314	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	244					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CGCCTCTTGTCCTTGGTGATG	0.587000													41	78					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564819	33564819	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:33564819G>A	ENST00000321505.4	+	1	999	c.819G>A	c.(817-819)ggG>ggA	p.G273G	KIAA1549L_ENST00000265654.5_Silent_p.G273G|KIAA1549L_ENST00000389726.3_Silent_p.G273G					KIAA1549-like																		CCATTTTAGGGAAGAATGAAG	0.438000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	70					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439593	4439593	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4439593C>T	ENST00000329078.3	+	11	1689	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	493					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTAAGGACTCCCCGCTCTGGG	0.642000													20	50					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558353	113558353	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:113558353C>T	ENST00000284601.3	-	1	767	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	233					glycogen metabolic process	integral to membrane		p.K233N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGTTCTTTCTTTTGACAAA	0.338000													49	100					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6752731	6752731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6752731C>T	ENST00000229243.2	-	6	1144	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.E318K	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	351						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGGATCTCCTCCTCCATGTAC	0.557000													37	58					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108195336	108195336	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:108195336C>T	ENST00000273353.3	-	13	1257	c.1201G>A	c.(1201-1203)Ggc>Agc	p.G401S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	401	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGTTAATGCCCATGAGGAAA	0.398000													15	20					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017469	93017469	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:93017469C>T	ENST00000523629.1	-	6	1069	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RUNX1T1_ENST00000360348.2_Silent_p.Q168Q|RUNX1T1_ENST00000520724.1_Silent_p.Q168Q|RUNX1T1_ENST00000396218.1_Silent_p.Q178Q|RUNX1T1_ENST00000265814.3_Silent_p.Q205Q|RUNX1T1_ENST00000518844.1_Silent_p.Q178Q|RUNX1T1_ENST00000521553.1_Silent_p.Q168Q|RUNX1T1_ENST00000422361.2_Silent_p.Q168Q|RUNX1T1_ENST00000436581.2_Silent_p.Q216Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	205	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGCAGGGTTCTGTTTGGCCA	0.562000													36	36					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910063	184910063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:184910063G>A	ENST00000231887.3	-	7	2198	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	EHHADH_ENST00000456310.1_Missense_Mutation_p.P612L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	708						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTCTTTCAGGGGAGGGTTTCC	0.453000													30	63					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387762	46387762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:46387762G>A	ENST00000302165.3	-	1	1614	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTTCAGGGCGGCAATGGGCGA	0.721000													17	22					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207689	116207689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:116207689G>A	ENST00000369252.4	-	15	1806	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	ABLIM1_ENST00000369266.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000277895.5_Missense_Mutation_p.P562L|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P185L|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P502L	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	562					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCAATCTTTGGTGTCTCGCT	0.547000													30	50					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715622	15715622	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15715622G>A	ENST00000396368.3	-	12	2813	c.2607C>T	c.(2605-2607)acC>acT	p.T869T	KIAA0430_ENST00000551742.1_Silent_p.T869T|KIAA0430_ENST00000602337.1_Silent_p.T866T|KIAA0430_ENST00000540441.2_Silent_p.T704T|KIAA0430_ENST00000548025.1_Silent_p.T866T|KIAA0430_ENST00000344181.3_Silent_p.T538T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	868	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGCAGCCCCGGTGGCAAGTG	0.408000													27	32					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61741254	61741254	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:61741254C>T	ENST00000423902.2	+	14	3890	c.3411C>T	c.(3409-3411)ctC>ctT	p.L1137L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1137	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAACCCCACTCCAGAACACTG	0.423000													9	12					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191937	152191937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152191937G>A	ENST00000368801.2	-	3	2243	c.2168C>T	c.(2167-2169)tCc>tTc	p.S723F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	723					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGCCGGAGGAGTGACTTGA	0.542000													87	91					0	0	1	0	0
SCAND1	51282	broad.mit.edu	37	20	34542150	34542150	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34542150C>T	ENST00000373991.3	-	3	1127	c.57G>A	c.(55-57)ccG>ccA	p.P19P	SCAND1_ENST00000305978.2_Silent_p.P19P			P57086	SCND1_HUMAN	SCAN domain containing 1	19					viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					CCAGTTTCTCCGGTGGCACCG	0.662000													8	33					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112440463	112440463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:112440463G>A	ENST00000230538.7	-	34	5114	c.4717C>T	c.(4717-4719)Cga>Tga	p.R1573*	LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R1566*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1573	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTAGGACTCGGAGACCATCA	0.453000													31	23					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50899028	50899028	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50899028G>A	ENST00000380817.2	-	24	3264	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	SBF1_ENST00000348911.6_Silent_p.T1028T|SBF1_ENST00000390679.3_Silent_p.T1027T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1027					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGCCCAAGGTGAACGCAA	0.647000													56	102					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23846500	23846500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23846500G>A	ENST00000359320.3	+	1	484	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CMTM5_ENST00000555731.1_Missense_Mutation_p.E14K|CMTM5_ENST00000382809.2_Missense_Mutation_p.E14K|CMTM5_ENST00000339180.4_Missense_Mutation_p.E14K|CMTM5_ENST00000342473.4_Missense_Mutation_p.E14K|CMTM5_ENST00000397227.3_Missense_Mutation_p.E14K	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	14					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCACCCTGAGGAGGGGGTAGT	0.607000													31	46					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124817682	124817682	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124817682T>C	ENST00000356219.3	-	43	6925	c.6770A>G	c.(6769-6771)gAg>gGg	p.E2257G	NCOR2_ENST00000404621.1_Missense_Mutation_p.E2240G|NCOR2_ENST00000429285.2_Missense_Mutation_p.E2240G|NCOR2_ENST00000405201.1_Missense_Mutation_p.E2250G|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1811G|NCOR2_ENST00000397355.1_Missense_Mutation_p.E2241G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTC	0.642000													16	61					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967227	81967227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:81967227G>A	ENST00000282701.2	+	2	972	c.652G>A	c.(652-654)Gga>Aga	p.G218R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	218					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTTCCTCATAGGATTTAACAT	0.433000													71	52					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938406	76938406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76938406C>T	ENST00000373344.5	-	9	2556	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R743Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAACTTTTTCGTTTCCTTTT	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						124	123					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31692569	31692569	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31692569G>A	ENST00000480039.1	+	5	609	c.569G>A	c.(568-570)aGg>aAg	p.R190K	C6orf25_ENST00000375810.4_Silent_p.E196E|C6orf25_ENST00000375805.2_Missense_Mutation_p.R166K|C6orf25_ENST00000375809.3_Silent_p.E196E			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	190						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GAGCCCCAGAGGCCAGTAAAG	0.572000													3	25					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43979139	43979139	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:43979139C>T	ENST00000352133.2	+	11	1903	c.921C>T	c.(919-921)ctC>ctT	p.L307L	SLC37A1_ENST00000398341.3_Silent_p.L307L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	307					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCGTCATTCTCCCCGGGGACG	0.577000													23	9					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315196	12315196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:12315196G>A	ENST00000256186.2	+	3	509	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	73	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GTAGCCCAAGGAGCACCCAGG	0.582000													57	111					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51197996	51197996	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51197996C>T	ENST00000266037.9	+	12	923	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	300						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCGGATGCTCCTGAACGACT	0.517000													10	10					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685766	125685766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:125685766C>T	ENST00000371126.1	-	1	1068	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	276										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTCCCAGTTCCTGGTTCTTG	0.637000													39	51					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6653331	6653331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6653331C>T	ENST00000299441.3	-	6	3823	c.3412G>A	c.(3412-3414)Gga>Aga	p.G1138R	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1138	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAGACGTCCATTGGGTCCT	0.607000													9	15					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54804026	54804026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54804026G>A	ENST00000545554.1	+	23	5455	c.5455G>A	c.(5455-5457)Gag>Aag	p.E1819K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1819K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1817K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGGGAAGGAGGTGGGTAT	0.348000													6	5					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158619695	158619695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158619695C>T	ENST00000368148.3	-	25	3700	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1174K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1174					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGCTGTTCATCTGCAAGC	0.453000													9	31					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295426	29295426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29295426C>T	ENST00000331664.5	-	1	1701	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	568					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCCCCTCCTCCTCCTCAGAC	0.592000													21	40					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131080314	131080314	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:131080314C>T	ENST00000514667.1	-	2	223	c.162G>A	c.(160-162)ggG>ggA	p.G54G	FNIP1_ENST00000510461.1_Silent_p.G54G|FNIP1_ENST00000307968.7_Silent_p.G54G|FNIP1_ENST00000307954.8_Silent_p.G54G|FNIP1_ENST00000511848.1_Silent_p.G54G					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AAACATTTCTCCCTCGTCTTT	0.363000													21	37					0	0	1	0	0
DNM1P34	729809	broad.mit.edu	37	15	75594981	75594981	+	RNA	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75594981C>A	ENST00000567292.1	-	0	325																											GAACCATTCTCCTCGGCCTTG	0.617000													8	9					5.4927e-09	5.53578e-09	1	1	0
HGFAC	3083	broad.mit.edu	37	4	3444616	3444616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:3444616C>T	ENST00000382774.3	+	2	390	c.275C>T	c.(274-276)tCg>tTg	p.S92L	HGFAC_ENST00000511533.1_Missense_Mutation_p.S92L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	92					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.S92*(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGTTCCCTCGAGCAGTAGC	0.677000													14	23					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118638971	118638971	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118638971G>A	ENST00000264018.4	-	5	764	c.459C>T	c.(457-459)ccC>ccT	p.P153P	DDX6_ENST00000534980.1_Silent_p.P153P|DDX6_ENST00000526070.2_Silent_p.P153P	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	153	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GTTCAAGTAAGGGAATGAGGT	0.408000			T	IGH@	B-NHL								10	21					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126715548	126715548	+	Missense_Mutation	SNP	G	G	A	rs149172507	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715548G>A	ENST00000309035.6	-	1	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	414					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGCTTTCCCGGGCAGGCCCG	0.647000													30	46					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849227	94849227	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94849227G>A	ENST00000448921.1	-	4	920	c.348C>T	c.(346-348)atC>atT	p.I116I	SERPINA1_ENST00000393087.4_Silent_p.I116I|SERPINA1_ENST00000355814.4_Silent_p.I116I|SERPINA1_ENST00000402629.1_Silent_p.I116I|SERPINA1_ENST00000437397.1_Silent_p.I116I|SERPINA1_ENST00000440909.1_Silent_p.I116I|SERPINA1_ENST00000449399.3_Silent_p.I116I|SERPINA1_ENST00000393088.4_Silent_p.I116I|SERPINA1_ENST00000404814.4_Silent_p.I116I	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	116			I -> N (in QO-Ludwigshafen; dbSNP:rs28931572).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AGCCTTCATGGATCTGAGCCT	0.587000													17	32					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220431779	220431779	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:220431779G>A	ENST00000404537.1	-	5	1963	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	OBSL1_ENST00000289656.3_Missense_Mutation_p.S223F|OBSL1_ENST00000603926.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373876.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373873.4_Missense_Mutation_p.S636F|OBSL1_ENST00000265318.4_Missense_Mutation_p.S636F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	636					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GAGATCGAGGGAGAAGACGGC	0.607000													6	11					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35806928	35806928	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35806928C>T	ENST00000440995.2	+	35	5115	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	SPEF2_ENST00000303129.4_Silent_p.I507I|SPEF2_ENST00000356031.3_Silent_p.I1710I|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1710					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGAAGAAATCCCTGAAAATG	0.433000													16	31					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497038	1497038	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1497038C>T	ENST00000421627.2	+	2	313	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	139					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGCGCAGCTCGGTGCACTCG	0.731000													9	15					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39019386	39019386	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39019386C>T	ENST00000251643.4	-	6	1328	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	435	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CTTGGGCCTCCCCGTCCAGCA	0.607000													18	29					0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209045982	209045982	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209045982C>T	ENST00000341287.4	-	5	449	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	C2orf80_ENST00000453017.1_Missense_Mutation_p.R85Q|C2orf80_ENST00000451346.1_Missense_Mutation_p.R66Q	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	85										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CATAGCTTCTCGTTCTCTACG	0.333000													34	11					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12064978	12064978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12064978A>G	ENST00000235329.5	+	14	1811	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V	MFN2_ENST00000444836.1_Missense_Mutation_p.M497V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	497					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCAGCAGGACATGATAGGTTA	0.572000													11	8					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37702243	37702243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37702243G>A	ENST00000220659.6	-	4	1145	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	342					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAAACCTAAGGAATTATTTCC	0.622000													23	36					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156438605	156438605	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156438605G>A	ENST00000348159.4	-	10	1694	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Missense_Mutation_p.S398F|MEF2D_ENST00000353795.3_Missense_Mutation_p.S359F|MEF2D_ENST00000340875.5_Missense_Mutation_p.S404F|MEF2D_ENST00000360595.3_Missense_Mutation_p.S398F	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	405					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACCAGGTGGGACTGTTGCTG	0.617000													27	39					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811026	5811026	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:5811026G>A	ENST00000381095.3	-	6	2910	c.2283C>T	c.(2281-2283)acC>acT	p.T761T	NLGN4X_ENST00000381092.1_Silent_p.T761T|NLGN4X_ENST00000275857.6_Silent_p.T761T|NLGN4X_ENST00000538097.1_Silent_p.T761T|NLGN4X_ENST00000381093.2_Silent_p.T781T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	761					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGCGTGAGGGTGTAGTCTG	0.562000													56	72					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14963955	14963955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14963955C>T	ENST00000285046.5	+	15	3817	c.3707C>T	c.(3706-3708)cCc>cTc	p.P1236L	FGD5_ENST00000543601.1_Missense_Mutation_p.P995L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1236					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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGAGAGGCCCCCCACCCTG	0.597000													2	0					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671501	99671501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:99671501C>T	ENST00000336292.6	+	5	3053	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	SYNM_ENST00000328642.7_Missense_Mutation_p.P978L|SYNM_ENST00000560674.1_Missense_Mutation_p.P693L|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	979	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CAGGGTGGGCCGGGGAGCGTT	0.632000													3	11					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91850783	91850783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:91850783C>T	ENST00000370425.3	-	6	861	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	255							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAACCATTTTCTGTTACCTCT	0.264000													17	52					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46748059	46748059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:46748059G>A	ENST00000311907.5	+	8	942	c.886G>A	c.(886-888)Gag>Aag	p.E296K	F2_ENST00000530231.1_Missense_Mutation_p.E296K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	296					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGAGGCCGTGGAGGAGGAGAC	0.622000													7	20					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853078	29853078	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29853078C>T	ENST00000357402.5	+	9	1491	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	MVP_ENST00000395353.1_Silent_p.P451P|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	451					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCTTGGCGCCCCGGAACAAGA	0.662000													10	16					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24790575	24790575	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:24790575C>T	ENST00000003912.3	+	12	1455	c.740C>T	c.(739-741)cCa>cTa	p.P247L	NIPAL3_ENST00000374399.4_Missense_Mutation_p.P329L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.P329L			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	329						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AAGCCCATTCCATTTGAGCCC	0.463000													6	19					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202350	248202350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248202350C>T	ENST00000366479.2	+	1	877	c.781C>T	c.(781-783)Cca>Tca	p.P261S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATGTACGTCCAAGATCCCT	0.493000													38	44					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887299	86887299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:86887299G>A	ENST00000373119.4	+	7	1559	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	KLHL4_ENST00000373114.4_Missense_Mutation_p.A472T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	472						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTTGGAGTCGCAGTTATTGA	0.408000													25	42					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149346	34149346	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149346G>A	ENST00000346193.3	-	1	1101	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	350										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCCGAGCGGAGACTGGACC	0.657000													24	31					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858010	52858010	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52858010G>A	ENST00000266041.4	-	10	1278	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Silent_p.N394N|ITIH4_ENST00000434759.3_Silent_p.N306N|ITIH4_ENST00000346281.5_Silent_p.N394N|ITIH4_ENST00000485816.1_Silent_p.N394N	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	394	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTCCTGGGGTTAGTCTCCC	0.547000													18	27					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67700134	67700134	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67700134C>T	ENST00000243878.4	-	2	441	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ENKD1_ENST00000602644.1_Silent_p.L40L	NM_032140.1	NP_115516.1			enkurin domain containing 1																		TCAGCAAGTCCAGCTTCAGCG	0.736000													12	31					0	0	1	0	0
KIAA0101	9768	broad.mit.edu	37	15	64669077	64669077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:64669077G>A	ENST00000300035.4	-	3	293	c.155C>T	c.(154-156)cCc>cTc	p.P52L	KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000558008.1_Missense_Mutation_p.P52L|KIAA0101_ENST00000560234.1_Missense_Mutation_p.P53S|KIAA0101_ENST00000559519.1_Missense_Mutation_p.P25L	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	52						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CACGCAAACGGGGTTCCCTCC	0.378000													17	31					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985327	985327	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:985327G>A	ENST00000361661.2	-	3	542	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.P55P|SLC26A1_ENST00000398520.2_Silent_p.P55P|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	55						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGCGTGGCGGGGAGCAGGT	0.692000													13	22					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817211	82817211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82817211G>A	ENST00000265077.3	+	7	3651	c.3086G>A	c.(3085-3087)gGa>gAa	p.G1029E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1029E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G981E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1029	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATCACAGAGGGAACAACTCAG	0.453000													17	25					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751273	19751273	+	Missense_Mutation	SNP	C	C	T	rs146654670		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:19751273C>T	ENST00000400113.3	-	4	954	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	284					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.E284K(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACAGCTGCTCGTGGTAGGCC	0.607000													46	89					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884974	117884974	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:117884974G>A	ENST00000439649.3	-	5	880	c.513C>T	c.(511-513)acC>acT	p.T171T	GFRA1_ENST00000544592.1_Silent_p.T55T|GFRA1_ENST00000355422.6_Silent_p.T176T|GFRA1_ENST00000369236.1_Silent_p.T171T	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	176					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGTGCACGGGGTGATGTACG	0.587000													19	36					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64938844	64938844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64938844G>A	ENST00000377185.2	+	2	155	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	25					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGACTCCCAAGACCCCACCAC	0.582000													41	83					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7654044	7654044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7654044C>T	ENST00000359156.4	-	3	350	c.148G>A	c.(148-150)Gag>Aag	p.E50K	CD163_ENST00000432237.2_Missense_Mutation_p.E50K|CD163_ENST00000396620.3_Missense_Mutation_p.E50K|CD163_ENST00000541972.1_Missense_Mutation_p.E38K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	50					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCCTCAGCTCCTTGTCTGTT	0.438000													39	54					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903718	5903718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:5903718G>A	ENST00000378961.4	+	4	1132	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	310						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCCCAGGAGGAATCTGAGGA	0.572000													12	26					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609288	21609288	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21609288C>T	ENST00000425654.2	+	14	2196	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S	CNKSR2_ENST00000379510.3_Silent_p.S602S|CNKSR2_ENST00000543067.1_Silent_p.S553S|CNKSR2_ENST00000279451.4_Silent_p.S602S	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	602	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGATGCATCCCTTTATTGGT	0.348000													50	69					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120750389	120750389	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120750389G>C	ENST00000202967.4	+	3	687	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	210	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTCAGAGGAGCAAGTCCG	0.577000													24	58					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557944	10557944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10557944G>C	ENST00000304519.5	+	4	877	c.848G>C	c.(847-849)aGa>aCa	p.R283T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	283										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AAGCCCCAAAGAGCGAGCAAA	0.597000													3	14					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557239	38557239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38557239G>A	ENST00000423485.1	-	21	2685	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	843					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGAATAATAGGAATGTACCAT	0.408000													51	91					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000436	14000436	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000436G>A	ENST00000454313.1	-	6	1291	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	C19orf57_ENST00000586783.1_Silent_p.V411V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V411V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	411					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCCACTAGGACATCGCCGG	0.652000													19	38					0	0	1	0	0
COQ9	57017	broad.mit.edu	37	16	57486715	57486715	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:57486715A>T	ENST00000262507.6	+	3	314	c.245A>T	c.(244-246)tAt>tTt	p.Y82F	COQ9_ENST00000567072.1_Missense_Mutation_p.Y82F|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Y82F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	82					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTCTCAGGTATACAGACCAG	0.572000													39	78					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757525	757525	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:757525C>A	ENST00000215582.6	+	2	682	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		AGATTGACTTCCTGGCAGCGA	0.682000													6	0					0.248553	0.248553	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11505362	11505362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:11505362G>A	ENST00000379237.1	-	15	1959	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	USP6NL_ENST00000277575.5_Missense_Mutation_p.P539L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	522						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CACCTCGGCAGGACCTGGGAC	0.607000													53	115					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911582	101911582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101911582G>A	ENST00000537097.1	+	6	3554	c.2741G>A	c.(2740-2742)gGa>gAa	p.G914E	GPRASP1_ENST00000444152.1_Missense_Mutation_p.G914E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G914E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G914E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	914	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGGATGGAAAAGAAGTC	0.478000													61	90					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149648	61149648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:61149648C>T	ENST00000295025.7	+	11	2158	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	REL_ENST00000394479.3_Missense_Mutation_p.P581L	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	613					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GACTCCTTTCCATATGAATTT	0.333000			A		Hodgkin Lymphoma								7	27					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376850	138376850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:138376850C>T	ENST00000356818.2	+	4	1043	c.494C>T	c.(493-495)gCc>gTc	p.A165V	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A165V|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A165V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	165						nucleolus	protein binding										CCTTCCAGGGCCGCAGGCGGA	0.672000													30	7					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515221	140515221	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140515221A>G	ENST00000231134.5	+	1	422	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		69	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTACAAAGGAAACAA	0.517000													49	70					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28149714	28149714	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28149714C>T	ENST00000305242.5	-	19	2953	c.2861G>A	c.(2860-2862)aGg>aAg	p.R954K	ARMC4_ENST00000545014.1_Missense_Mutation_p.R479K|ARMC4_ENST00000537576.1_Missense_Mutation_p.R646K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	954							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACTCTATTCCTGCCCCACAT	0.463000													25	39					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092277	143092277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:143092277G>A	ENST00000367603.2	-	5	4341	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1200L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1200L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATTCTGGATTGGAGAAAATGG	0.443000													78	48					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280041	22280041	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22280041G>A	ENST00000390431.3	+	0	230																											GACAAGGGAAGGAACAAAGGT	0.458000													16	22					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880794	39880794	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:39880794G>A	ENST00000260356.5	+	10	1704	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	513	TSP type-1 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGGGGTACAGAAACGTAGTC	0.512000													14	27					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537676	36537676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:36537676C>T	ENST00000424878.2	-	4	2329	c.181G>A	c.(181-183)Gac>Aac	p.D61N	APOL3_ENST00000397287.2_Missense_Mutation_p.D61N|APOL3_ENST00000349314.2_Missense_Mutation_p.D261N|APOL3_ENST00000397293.2_Missense_Mutation_p.D190N|APOL3_ENST00000361710.2_Missense_Mutation_p.D61N			O95236	APOL3_HUMAN	apolipoprotein L, 3	261					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TTCAATCGGTCAATGCTGGTT	0.473000													28	46					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12708017	12708017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:12708017G>A	ENST00000388918.5	+	7	1411	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.E138K|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Missense_Mutation_p.E137K	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	428					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ATTTCCATTGGAAAATGCCCC	0.358000									Oculocutaneous Albinism				18	9					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001353	109001353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109001353C>T	ENST00000276659.5	-	3	834	c.214G>A	c.(214-216)Gga>Aga	p.G72R	RSPO2_ENST00000517939.1_Missense_Mutation_p.G5R|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	72					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGGCACTCTCCATACTGGCGC	0.478000													31	41					0	0	1	0	0
SNORA71B	26776	broad.mit.edu	37	20	37053897	37053897	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:37053897G>A	ENST00000364546.1	-	0	82																											CTTCAAACACGGGGAAGCGCT	0.502000													31	73					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971378	57971378	+	Silent	SNP	G	G	A	rs140744069		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57971378G>A	ENST00000302592.6	-	1	275	c.276C>T	c.(274-276)ccC>ccT	p.P92P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCAGCATTTTGGGGACTGAGT	0.418000													37	87					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181486	24181486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:24181486G>A	ENST00000265769.4	+	9	970	c.860G>A	c.(859-861)aGa>aAa	p.R287K	ADAM28_ENST00000397649.3_Missense_Mutation_p.R34K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.R54K|ADAM28_ENST00000437154.2_Missense_Mutation_p.R287K|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	287	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTCTCAAGAAGAAAGCGTCAT	0.403000													25	37					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55849754	55849754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:55849754G>A	ENST00000373965.2	-	17	2402	c.2008C>T	c.(2008-2010)Ctt>Ttt	p.L670F	PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L626F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L668F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L663F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L641F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L663F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L274F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L641F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L663F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L663F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L670F|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	663	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTCTGAAAGATTAAAAACT	0.348000										HNSCC(58;0.16)			20	35					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21581440	21581440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21581440G>A	ENST00000425654.2	+	12	1868	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	CNKSR2_ENST00000379510.3_Missense_Mutation_p.G493E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G444E|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G493E	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	493	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGGACACAGGGAAGAAGTCA	0.368000													34	47					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745163	23745163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23745163G>A	ENST00000357460.5	-	2	1438	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P427L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P427L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	425	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P425H(1)|p.P401H(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGGGCACCAGGTACTGCGTT	0.537000													7	14					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871624	31871624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:31871624G>A	ENST00000396556.2	-	4	759	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	213					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACAACACCGGGGGCCCCCACA	0.582000													16	27					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120740127	120740127	+	Silent	SNP	G	G	A	rs147197905		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:120740127G>A	ENST00000310396.5	+	7	1364	c.897G>A	c.(895-897)aaG>aaA	p.K299K	CPED1_ENST00000423795.1_Silent_p.K79K|CPED1_ENST00000450913.2_Silent_p.K299K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.K299K(1)									ATCCACCAAAGAAAAAACGCT	0.428000													24	37					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117242148	117242148	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:117242148C>T	ENST00000278935.3	+	9	1265	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	373					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAAGGCTTCTGCTCTGGAA	0.572000													44	54					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416176	96416176	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:96416176G>A	ENST00000602402.1	+	9	1161	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	DNAJC3_ENST00000376795.6_Silent_p.E297E	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	348					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATCGAGCAGAGGCCTATTTGA	0.378000													37	66					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362332	362332	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:362332G>A	ENST00000342640.4	-	8	1050	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	THEG_ENST00000346878.2_Silent_p.I312I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	336					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.I336I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGAGATGATCCGGGGGC	0.617000													70	25					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30532957	30532957	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30532957G>A	ENST00000356798.6	+	31	3664	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	ITGAL_ENST00000433423.2_Missense_Mutation_p.D396N|ITGAL_ENST00000358164.5_Missense_Mutation_p.D1078N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1162					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCATGAGAAGGACTCTGAGAG	0.617000													22	30					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543894	28543894	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28543894G>A	ENST00000452236.2	-	3	1205	c.588C>T	c.(586-588)tcC>tcT	p.S196S	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	196					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAGACATCATGGAAAACCACA	0.338000													16	14					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375924	93375924	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:93375924C>T	ENST00000375765.3	-	2	574	c.186G>A	c.(184-186)acG>acA	p.T62T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	62					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GGCTCCCCGTCGTGTCGGTGA	0.582000													75	27					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800779	185800779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:185800779C>T	ENST00000302277.6	+	4	1250	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	219						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTGCATTTCCAAAGAAAGCG	0.418000													36	47					0	0	1	0	0
SGK494	124923	broad.mit.edu	37	17	26939672	26939672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26939672C>T	ENST00000301037.5	-	5	510	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR	NM_001174103.1	NP_001167574.1																					CAGCTGTCCCCCAAGCTGTGT	0.488000													8	29					0	0	1	0	0
MED30	90390	broad.mit.edu	37	8	118533124	118533124	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:118533124C>T	ENST00000297347.3	+	1	173	c.9C>T	c.(7-9)acC>acT	p.T3T	MED30_ENST00000522839.1_Silent_p.T3T	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	3					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCATGTCCACCCCTCCGTTGG	0.721000													9	9					0	0	1	0	0
ZNF784	147808	broad.mit.edu	37	19	56133381	56133381	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56133381G>A	ENST00000325351.4	-	2	747	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAAGCACCGAGGACTGGGTGA	0.662000													4	6					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74516717	74516717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74516717C>T	ENST00000394009.3	+	8	1228	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Nonsense_Mutation_p.Q94*	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		TGCTCTGCACCAAGTGAAGCA	0.408000													24	32					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202270008	202270008	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:202270008C>T	ENST00000367278.3	+	8	906	c.817C>T	c.(817-819)Cca>Tca	p.P273S	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.P221S|LGR6_ENST00000439764.2_Missense_Mutation_p.P134S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	273						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAAGGCCATCCCAGAAAAGGC	0.498000													44	62					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150908082	150908082	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150908082C>T	ENST00000329903.4	+	3	285	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	84					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGAATTTCCGAGAGGAGG	0.532000													26	38					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98865605	98865605	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:98865605G>A	ENST00000376586.2	+	2	445	c.109G>A	c.(109-111)Gga>Aga	p.G37R	FARP1_ENST00000319562.6_Missense_Mutation_p.G37R|FARP1_ENST00000376581.5_Missense_Mutation_p.G37R|FARP1_ENST00000595437.1_Missense_Mutation_p.G37R			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	37					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACACCTTCAGGAAAACTCGT	0.542000													72	124					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086254	160086254	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:160086254C>T	ENST00000263635.6	+	27	4554	c.4317C>T	c.(4315-4317)tcC>tcT	p.S1439S	TANC1_ENST00000454300.1_Silent_p.S1333S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1439						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCAACGACTCCGAGAACGAAG	0.537000													42	67					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31657450	31657450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31657450G>A	ENST00000375842.4	-	12	1318	c.332C>T	c.(331-333)gCc>gTc	p.A111V	ABHD16A_ENST00000395952.3_Missense_Mutation_p.A330V|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.A297V			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	330						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACATCCATGGCATTAGCCTC	0.592000													10	12					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748743	101748743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:101748743G>T	ENST00000506729.1	-	9	1748	c.1577C>A	c.(1576-1578)tCt>tAt	p.S526Y	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S273Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S464Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S526Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S273Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	526	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAAGCAGGGAGAAAAATATTC	0.299000													13	21					4.36969e-10	4.41062e-10	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16895701	16895701	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16895701G>A	ENST00000430580.2	-	23	3368	c.2481C>T	c.(2479-2481)gtC>gtT	p.V827V	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	827	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTCCTGGGGGACTTCCTCCT	0.483000													24	298					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315719	40315719	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40315719G>A	ENST00000264661.3	-	13	2714	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	KCNH4_ENST00000607371.1_Silent_p.S794S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	794					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)		GGCCGTGAGGGGAGGCACTGT	0.657000													8	17					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110966071	110966071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110966071G>A	ENST00000394780.3	+	13	1498	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	ALG13_ENST00000251943.4_Missense_Mutation_p.G392R	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	496	Tudor.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GTACTATTTGGGAGACAAGTG	0.328000													7	15					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320993	320993	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:320993C>T	ENST00000397770.3	-	13	986	c.969G>A	c.(967-969)aaG>aaA	p.K323K	RGS11_ENST00000359740.5_Silent_p.K312K|RGS11_ENST00000316163.5_Silent_p.K302K|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	323	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACTGAACTCCTTTCCCAGAA	0.672000													12	13					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85345185	85345185	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:85345185C>T	ENST00000299927.3	+	8	3387	c.3365C>T	c.(3364-3366)tCc>tTc	p.S1122F	ZNF592_ENST00000560079.2_Missense_Mutation_p.S1122F			Q92610	ZN592_HUMAN	zinc finger protein 592	1122					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGCACAAGTCCCTTTTTCAG	0.537000													31	46					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940120	31940120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31940120G>A	ENST00000375331.2	+	2	428	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	STK19_ENST00000375333.2_Missense_Mutation_p.E88K	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	88						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582000													40	26					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757217	71757217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71757217C>T	ENST00000318442.5	-	2	597	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGAGCCTTTCCCCGAGAAGC	0.567000													23	39					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412636	63412636	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63412636G>A	ENST00000330258.3	-	2	803	c.531C>T	c.(529-531)cgC>cgT	p.R177R	AMER1_ENST00000374869.3_Silent_p.R177R|AMER1_ENST00000403336.1_Silent_p.R177R	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCGGTGACGGCGGATACTGC	0.567000													50	64					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760702	186760702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:186760702C>T	ENST00000169298.3	+	4	885	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P71S|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	71					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CACCCAGGACCCCCACAGGGG	0.547000													23	70					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139411742	139411742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:139411742G>A	ENST00000277541.6	-	9	1612	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	513	EGF-like 13; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCACTGGAACTCATTG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	2					0	0	1	0	0
MIR145	406937	broad.mit.edu	37	5	148810268	148810268	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148810268C>T	ENST00000384967.1	+	0	60					NR_029686.1																						ATGGGGATTCCTGGAAATACT	0.572000											OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	12					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105879862	105879862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105879862G>A	ENST00000372548.4	+	7	1502	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	CXorf57_ENST00000372544.2_Missense_Mutation_p.G465R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	465										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGAGAGTGGAGTGTTTAT	0.313000													36	49					0	0	1	0	0
CACYBP	27101	broad.mit.edu	37	1	174973897	174973897	+	Missense_Mutation	SNP	C	C	T	rs11548912		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:174973897C>T	ENST00000367681.2	+	2	674	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	CACYBP_ENST00000367679.2_Missense_Mutation_p.L55F|CACYBP_ENST00000405362.1_Missense_Mutation_p.L12F|CACYBP_ENST00000406752.1_Missense_Mutation_p.L55F	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	55	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCAGAACTTCTTGATAATGA	0.403000													27	32					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112646363	112646363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:112646363C>T	ENST00000550722.1	-	51	7896	c.7501G>A	c.(7501-7503)Gac>Aac	p.D2501N	HECTD4_ENST00000377560.5_Missense_Mutation_p.D2475N|HECTD4_ENST00000430131.2_Missense_Mutation_p.D2225N	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGGTGAGGGTCTGGGCCAGAG	0.483000													25	98					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19363264	19363264	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:19363264G>A	ENST00000263208.5	-	15	1921	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	HIRA_ENST00000546308.1_Silent_p.T511T|HIRA_ENST00000340170.4_Silent_p.T555T|HIRA_ENST00000541063.1_Silent_p.T511T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	555	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCTTGGACGGGGTCGTTAACA	0.547000													21	37					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797633	76797633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:76797633G>A	ENST00000286719.7	-	11	1483	c.1127C>T	c.(1126-1128)cCc>cTc	p.P376L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	376	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCGCTGCAGGGGATGCTGGA	0.662000													11	16					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54407892	54407892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54407892C>T	ENST00000263431.3	+	16	1942	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.P554S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	554	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGATAGCCTCCCTTCGATGG	0.582000													4	16					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836515	82836515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82836515G>A	ENST00000265077.3	+	8	8258	c.7693G>A	c.(7693-7695)Gaa>Aaa	p.E2565K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1578K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2565	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACCATCCTTGAAATTCTACC	0.328000													30	42					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147517	62147517	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:62147517C>T	ENST00000416284.3	-	4	1854	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FAM19A2_ENST00000551619.1_Silent_p.V90V|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	90						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATTTCTGTTCCACTATTGAAG	0.388000													59	12					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7023295	7023295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7023295G>A	ENST00000389658.3	-	19	2662	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	857	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTCCGAGGGGTCCACGTTG	0.552000													23	40					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51440676	51440676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51440676G>A	ENST00000335891.5	-	16	3028	c.3019C>T	c.(3019-3021)Ccc>Tcc	p.P1007S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1456					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCAGAGGGAGAGAAGTCA	0.532000													15	15					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144194581	144194581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:144194581G>A	ENST00000295095.6	+	8	840	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	225					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATATAAAAGAACAGAAACC	0.338000													16	28					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769129	57769129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:57769129G>A	ENST00000371030.2	+	1	3055	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1019						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGAGAAAAGGGGCACAGTT	0.667000													9	19					0	0	1	0	0
LHB	3972	broad.mit.edu	37	19	49519378	49519378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49519378C>T	ENST00000221421.2	-	3	372	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	125					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGGGGTGGTCTTTGGGACCC	0.652000													38	62					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148303	34148303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34148303C>T	ENST00000346193.3	-	1	2144	c.2093G>A	c.(2092-2094)tGg>tAg	p.W698*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	698										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGAGGTACCATGCTCCATA	0.438000													41	73					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622618	180622618	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:180622618T>G	ENST00000393315.1	-	7	1157	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	TRIM7_ENST00000422067.2_Missense_Mutation_p.K154Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.K362Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.K180Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.K154Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	362						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGCACGCCCTTAAGATCCAGA	0.672000													32	41					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000676	49000676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49000676G>A	ENST00000600059.1	-	11	3877	c.3650C>T	c.(3649-3651)cCt>cTt	p.P1217L	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTTCCCCTGAGGGGGTCCCAA	0.667000													16	49					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431519	38431519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38431519C>T	ENST00000356264.2	-	19	1923	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	AMPH_ENST00000325590.5_Missense_Mutation_p.E528K|AMPH_ENST00000428293.2_Missense_Mutation_p.E528K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	570					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCCGCGTCCTCGGTGGTCTCC	0.597000													29	35					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128811293	128811293	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128811293C>T	ENST00000270861.5	+	7	2006	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	PLK4_ENST00000514379.1_Missense_Mutation_p.P537S|PLK4_ENST00000513090.1_Missense_Mutation_p.P546S|PLK4_ENST00000507249.1_Missense_Mutation_p.P544S|PLK4_ENST00000515069.1_Missense_Mutation_p.P500S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	578					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGTATGGAGCCACCATGGGG	0.418000													9	38					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62978840	62978840	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:62978840G>A	ENST00000561311.1	+	11	1188	c.957_splice	c.e11-1	p.E320_splice	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Splice_Site_p.E320_splice			Q9Y4G6	TLN2_HUMAN	talin 2	320	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGTTTCAGGAGAAGATGAA	0.493000													7	8					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6120860	6120860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6120860C>T	ENST00000261405.5	-	34	6019	c.5765G>A	c.(5764-5766)gGg>gAg	p.G1922E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1922					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCTCAGCCCCCGGTCACA	0.622000													16	17					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646389	19646389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19646389C>T	ENST00000555938.1	+	7	604	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199S|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149S																							CGTACTGGGCCCCGGCGTGGA	0.697000													8	17					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152479	49152479	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49152479G>A	ENST00000453664.1	-	14	2376	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	USP19_ENST00000398898.2_Silent_p.F635F|USP19_ENST00000398888.2_Silent_p.F595F|USP19_ENST00000417901.1_Silent_p.F698F|USP19_ENST00000434032.2_Silent_p.F696F|USP19_ENST00000398896.1_Silent_p.F403F|USP19_ENST00000398892.3_Silent_p.F635F	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	595					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCAGCAGGAAAGCCATGA	0.567000													14	44					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590801	140590801	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140590801C>T	ENST00000239450.2	+	1	2511	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	PCDHB12_ENST00000541609.1_Silent_p.F437F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		774					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCCTACCCCAGA	0.428000													40	40					0	0	1	0	0
PPIF	10105	broad.mit.edu	37	10	81113531	81113531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81113531C>T	ENST00000225174.3	+	6	628	c.557C>T	c.(556-558)tCt>tTt	p.S186F	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	186	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	AAAATAGAATCTTTCGGCTCT	0.537000													36	41					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932864	32932864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32932864G>A	ENST00000383763.4	+	4	2231	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	723					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAACCACCGGATCCAGCTG	0.542000													16	19					0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404618	52404618	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:52404618G>T	ENST00000260442.3	-	1	354	c.306C>A	c.(304-306)acC>acA	p.T102T	BCL2L10_ENST00000561198.1_Silent_p.T102T	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	92					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		TCCCTGCGAAGGTCACGAGCG	0.701000													16	19					0.006122	0.00613118	1	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346427	70346427	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:70346427C>T	ENST00000305107.6	-	6	1558	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.V368V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	504					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V504V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGATGAATATCACAGTTGCCA	0.488000													55	64					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596244	58596244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58596244C>T	ENST00000240727.6	-	7	1740	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	ZSCAN18_ENST00000421612.2_Nonsense_Mutation_p.W311*|ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.W503*|ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.W447*	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAAGGTCTTCCAGCAGCCCT	0.687000													6	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437888	179437888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179437888G>A	ENST00000589042.1	-	326	73195	c.72971C>T	c.(72970-72972)cCt>cTt	p.P24324L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21756L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22683L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15451L|TTN_ENST00000460472.2_Missense_Mutation_p.P15259L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22683	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGTCCAGGTTTAAACAC	0.433000													29	47					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237666759	237666759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237666759C>T	ENST00000366574.2	+	22	2884	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	RYR2_ENST00000360064.6_Missense_Mutation_p.S854F|RYR2_ENST00000542537.1_Missense_Mutation_p.S840F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	856	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCACAGTTTCCCTGACGCAA	0.502000													50	22					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480636	59480636	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59480636C>T	ENST00000307552.2	-	1	701	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGACCGGATCCGTAAAATGGC	0.493000													32	43					0	0	1	0	0
FAM24B	196792	broad.mit.edu	37	10	124608807	124608807	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:124608807C>T	ENST00000368898.3	-	4	531	c.241G>A	c.(241-243)Gat>Aat	p.D81N	FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.D81N	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	81						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGGAATCAAAACTGGCA	0.483000													31	47					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991509	47991509	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:47991509G>A	ENST00000371741.4	-	2	754	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	196					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGATGAACATGATGGAAATTA	0.517000													18	32					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29834827	29834827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29834827G>A	ENST00000354373.2	+	1	256	c.47G>A	c.(46-48)gGa>gAa	p.G16E	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCACCTCACGGAAATTTTCTT	0.463000													45	74					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9657024	9657024	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9657024G>A	ENST00000340305.5	+	3	351	c.342G>A	c.(340-342)gtG>gtA	p.V114V	TMEM201_ENST00000377376.4_Silent_p.V114V|TMEM201_ENST00000340381.6_Silent_p.V114V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	114						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGGGTGAGCAGCCAAG	0.652000													15	46					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259974	47259974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47259974C>T	ENST00000318584.5	+	4	1564	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	FKRP_ENST00000391909.3_Missense_Mutation_p.R423C|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	423						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CTTCTACCCCCGCAATGGCGT	0.637000													4	7					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367008	32367008	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:32367008C>T	ENST00000298386.2	+	16	1640	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V	RXFP2_ENST00000380314.1_Silent_p.V499V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	523						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTTCCTGGTCATTGTCTTCC	0.502000													19	24					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065569	23065569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:23065569C>T	ENST00000246006.4	-	1	1408	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	421	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGAGTCCCGTCCTCCCCGGCC	0.642000													34	51					0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141018523	141018523	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141018523C>T	ENST00000297164.3	+	3	1452	c.250_splice	c.e3-1	p.A84_splice	RELL2_ENST00000444782.1_Splice_Site_p.A84_splice|RELL2_ENST00000518856.1_Splice_Site_p.A18_splice|RELL2_ENST00000521367.1_Splice_Site_p.A18_splice|RELL2_ENST00000518025.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	84						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCTCAGCCAATGCTGAGG	0.557000													22	28					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499343	37499343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:37499343G>A	ENST00000381792.2	-	2	255	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R48W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R48W			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	48					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGGTAGCCCCGGGCTTTTCTC	0.662000													46	60					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55027332	55027332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:55027332G>A	ENST00000240316.4	-	2	1305	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	424	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TACAACACAGGAAACAGGATG	0.443000													47	76					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506784	37506784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37506784G>A	ENST00000374660.1	+	39	3533	c.3434G>A	c.(3433-3435)aGt>aAt	p.S1145N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1026N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1026N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATTGAAGAGTGTAGAAAGT	0.294000													10	28					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520823	70520823	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:70520823C>T	ENST00000265872.6	+	16	2099	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	CCAR1_ENST00000535016.1_Silent_p.S645S|CCAR1_ENST00000543719.1_Silent_p.S645S	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	660	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GATTAAAATCCCAGTTAATAG	0.363000													34	52					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237798220	237798220	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237798220G>A	ENST00000366574.2	+	44	7037	c.6720G>A	c.(6718-6720)ctG>ctA	p.L2240L	RYR2_ENST00000360064.6_Silent_p.L2238L|RYR2_ENST00000542537.1_Silent_p.L2224L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2240	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACACCACTGGATGTGGCTG	0.423000													9	4					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22173806	22173806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22173806G>A	ENST00000356766.6	+	19	2405	c.2257G>A	c.(2257-2259)Ggc>Agc	p.G753S	PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	753	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCCAGTAGAGGCATGCGCTC	0.418000													10	26					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2827949	2827949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2827949G>A	ENST00000381154.1	-	8	1282	c.1207C>T	c.(1207-1209)Ccg>Tcg	p.P403S		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	403						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCGGCCGGGAGCACCCCC	0.627000													23	41					0	0	1	0	0
SNORA71B	26776	broad.mit.edu	37	20	37053898	37053898	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:37053898G>A	ENST00000364546.1	-	0	81																											TTCAAACACGGGGAAGCGCTT	0.498000													31	70					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21097456	21097456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:21097456C>T	ENST00000377122.4	-	26	3140	c.2744G>A	c.(2743-2745)aGa>aAa	p.R915K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	915	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCAGACGGTCTTGTTACCTC	0.413000													31	51					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118638972	118638972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118638972G>A	ENST00000264018.4	-	5	763	c.458C>T	c.(457-459)cCc>cTc	p.P153L	DDX6_ENST00000534980.1_Missense_Mutation_p.P153L|DDX6_ENST00000526070.2_Missense_Mutation_p.P153L	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	153	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TTCAAGTAAGGGAATGAGGTA	0.403000			T	IGH@	B-NHL								10	21					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907258	11907258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11907258G>A	ENST00000376480.3	-	2	460	c.362C>T	c.(361-363)gCc>gTc	p.A121V	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.A71V|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	121					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCGAGGGGCAGTGAGCAG	0.642000													73	88					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153282473	153282473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153282473G>A	ENST00000369980.3	-	8	1122	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393687.2_Missense_Mutation_p.L319F|IRAK1_ENST00000393682.1_Missense_Mutation_p.L345F|IRAK1_ENST00000429936.2_Missense_Mutation_p.L345F|IRAK1_ENST00000369974.2_Missense_Mutation_p.L319F	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	319	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACCCAGAAGGATGTCCAGT	0.612000													58	119					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36125269	36125269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36125269G>A	ENST00000262633.4	+	8	1234	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	RBM42_ENST00000592202.1_Missense_Mutation_p.D323N|RBM42_ENST00000588161.1_Missense_Mutation_p.D347N|RBM42_ENST00000589871.1_Missense_Mutation_p.D355N|RBM42_ENST00000360475.4_Missense_Mutation_p.D348N|RBM42_ENST00000589559.1_Missense_Mutation_p.D348N|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	377	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGGAGTGGGATGCAGGTAA	0.612000													15	17					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609287	21609287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21609287C>T	ENST00000425654.2	+	14	2195	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	CNKSR2_ENST00000379510.3_Missense_Mutation_p.S602F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S553F|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S602F	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	602	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGGATGCATCCCTTTATTGG	0.353000													50	68					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095285	167095285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167095285G>A	ENST00000361200.2	+	6	1083	c.917G>A	c.(916-918)gGg>gAg	p.G306E	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306E|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCATGCTCGGGGCCAGAGTG	0.657000													6	15					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	406991	406991	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:406991C>T	ENST00000432829.2	+	28	3564	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GATCTGACTTCCGAGTACCGC	0.522000													105	27					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478237	14478237	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14478237G>A	ENST00000581457.1	-	0	1671					NR_024076.1																						ACTTAGATTAGGGGCAGCTAC	0.488000													14	28					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354709	10354709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10354709C>T	ENST00000255381.2	-	28	3909	c.3799G>A	c.(3799-3801)Gaa>Aaa	p.E1267K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1267					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTCTTCTTCCTTTGTTTTT	0.423000													27	59					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053708	94053708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:94053708C>T	ENST00000297268.6	+	41	3097	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	876					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTGGGTCTCCCTGGCTCGAG	0.473000										HNSCC(75;0.22)			29	98					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716410	45716410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45716410G>A	ENST00000413988.1	-	10	1187	c.1147C>T	c.(1147-1149)Ctc>Ttc	p.L383F	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.L383F|AC006126.3_ENST00000591569.1_Intron	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	383										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		AGCCGGGAGAGGGGGAGGCGG	0.701000													4	11					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530113	100530113	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:100530113T>C	ENST00000457717.1	+	13	2004	c.1748T>C	c.(1747-1749)cTa>cCa	p.L583P	MTTP_ENST00000511045.1_Missense_Mutation_p.L610P|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L583P	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	583	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAAGACATCCTACGTTTTGAA	0.403000													24	73					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212563	62212563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:62212563G>A	ENST00000519846.1	+	3	649	c.177G>A	c.(175-177)atG>atA	p.M59I	CLVS1_ENST00000325897.4_Missense_Mutation_p.M59I|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	59					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCAGGGACATGATCATCACCA	0.468000													21	48					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29834826	29834826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29834826G>A	ENST00000354373.2	+	1	255	c.46G>A	c.(46-48)Gga>Aga	p.G16R	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCACCTCACGGAAATTTTCT	0.463000													44	74					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75979625	75979625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75979625G>A	ENST00000308508.5	-	3	3873	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1261	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCCAGCTGGTCCCTTCTG	0.612000													63	69					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086231	92086231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92086231G>A	ENST00000298047.6	+	1	970	c.953G>A	c.(952-954)gGa>gAa	p.G318E	FAT3_ENST00000541502.1_Missense_Mutation_p.G318E|FAT3_ENST00000525166.1_Missense_Mutation_p.G168E|FAT3_ENST00000409404.2_Missense_Mutation_p.G318E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	318	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTAAGGAAGGAAAGTGGTTG	0.448000										TCGA Ovarian(4;0.039)			15	17					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209543	140209543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140209543C>T	ENST00000529310.1	+	1	1981	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCGTTTCGCGTGGGGCT	0.652000													40	56					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:122634365C>A	ENST00000195173.4	-	14	2213	c.1910G>T	c.(1909-1911)cGa>cTa	p.R637L	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607000													30	35					3.73148e-12	3.77784e-12	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1248001	1248001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1248001G>C	ENST00000447027.1	+	4	414	c.356G>C	c.(355-357)cGc>cCc	p.R119P	MUC5B_ENST00000529681.1_Missense_Mutation_p.R119P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	119	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCAGCTACGCCGAGGCCTA	0.632000													6	26					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028822	59028822	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59028822C>T	ENST00000594051.1	-	2	699	c.219G>A	c.(217-219)ccG>ccA	p.P73P	ZBTB45_ENST00000354590.3_Silent_p.P73P|ZBTB45_ENST00000600990.1_Silent_p.P73P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	73	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGGGCACCACCGGAGGCACAC	0.662000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	41					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152722630	152722630	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152722630G>A	ENST00000421080.2	-	7	1190	c.24C>T	c.(22-24)atC>atT	p.I8I	HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Silent_p.I147I|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370219.3_Silent_p.I147I|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370211.4_Silent_p.I137I			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	147					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TCAGGCTCCGGATGGTATCGA	0.572000													26	38					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533090	63533090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:63533090C>A	ENST00000307078.5	-	7	2117	c.1804G>T	c.(1804-1806)Gga>Tga	p.G602*	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	602				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCCAGCTCCGCCGGGGGCC	0.692000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				24	37					3.5997e-14	3.65439e-14	1	1	0
ADCY8	114	broad.mit.edu	37	8	131949383	131949383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:131949383C>T	ENST00000286355.5	-	5	3509	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E473K|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	473					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCGGGGCTCAGGAAGTCCA	0.502000										HNSCC(32;0.087)			25	40					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29393813	29393813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:29393813G>A	ENST00000558402.1	+	11	1949	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	APBA2_ENST00000411764.1_Missense_Mutation_p.M438I|APBA2_ENST00000558330.1_Missense_Mutation_p.M438I|APBA2_ENST00000561069.1_Missense_Mutation_p.M450I|APBA2_ENST00000558259.1_Missense_Mutation_p.M450I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	450	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AAACCATGATGGACCACGCCT	0.577000													15	10					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69871334	69871334	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69871334G>A	ENST00000395889.2	-	18	1649	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TEX11_ENST00000344304.3_Silent_p.F498F|TEX11_ENST00000374320.2_Silent_p.F173F|TEX11_ENST00000374333.2_Silent_p.F483F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	498							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAATCTTGAATATATAAA	0.348000													23	33					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75348710	75348710	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75348710C>T	ENST00000334220.4	+	1	115	c.54C>T	c.(52-54)gcC>gcT	p.A18A	DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	18					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CGCTCTCCGCCTTCCAGAAGG	0.731000													7	6					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321436	56321436	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56321436G>A	ENST00000443188.1	-	5	1250	c.540C>T	c.(538-540)atC>atT	p.I180I	NLRP11_ENST00000360133.3_Silent_p.I180I|NLRP11_ENST00000592953.1_Silent_p.I81I|NLRP11_ENST00000589093.1_Silent_p.I180I|NLRP11_ENST00000589824.2_Silent_p.I180I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	180	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CGACGTACGAGATCATGTTCT	0.498000													12	25					0	0	1	0	0
MIR517C	574492	broad.mit.edu	37	19	54244633	54244633	+	RNA	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54244633C>A	ENST00000385103.1	+	0	67					NR_030214.1																						ATCGTGCATCCTTTTAGAGTG	0.413000													18	35					1.55795e-14	1.5821e-14	1	1	0
KIAA0922	23240	broad.mit.edu	37	4	154553967	154553967	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154553967G>A	ENST00000409663.3	+	32	4354	c.4302G>A	c.(4300-4302)caG>caA	p.Q1434Q	KIAA0922_ENST00000440693.1_Silent_p.Q1351Q|KIAA0922_ENST00000409959.3_Silent_p.Q1435Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1434						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTGTGATTCAGGAGTCGGCCC	0.512000													23	38					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160703	2160703	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2160703C>T	ENST00000378536.4	+	1	570	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	166					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I166I(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCATGGGCATCCTGCCCTTCT	0.667000													3	11					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115455673	115455673	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:115455673A>G	ENST00000369522.3	+	19	1789	c.1549A>G	c.(1549-1551)Act>Gct	p.T517A	SYCP1_ENST00000369518.1_Missense_Mutation_p.T517A	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	517				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTGAATTAACTTCACACTG	0.284000													30	35					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20761140	20761140	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20761140G>A	ENST00000400451.2	+	5	2331	c.1817G>A	c.(1816-1818)gGg>gAg	p.G606E	ZNF74_ENST00000356671.5_Missense_Mutation_p.G606E|ZNF74_ENST00000405993.1_Missense_Mutation_p.G574E|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	606					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ctgggtgcaggggatgctgga	0.617000													16	36					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53342629	53342629	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:53342629A>G	ENST00000566029.1	+	34	7246	c.7037A>G	c.(7036-7038)cAa>cGa	p.Q2346R	CHD9_ENST00000398510.3_Missense_Mutation_p.Q2362R|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2346R|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2347R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2362	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTCAGAAGCAAGGGCTTGCT	0.418000													9	6					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100181843	100181843	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:100181843T>A	ENST00000376387.4	+	4	646	c.456T>A	c.(454-456)caT>caA	p.H152Q	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	152					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					ATTATCAACATCACTGGTAAG	0.294000													26	53					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105801294	105801294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:105801294C>T	ENST00000353479.5	-	37	2844	c.2554G>A	c.(2554-2556)Gtt>Att	p.V852I	COL17A1_ENST00000369733.3_Missense_Mutation_p.V852I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	852	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAATTAAGAACTTCTATAGAG	0.542000													12	16					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062673	9062673	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9062673G>A	ENST00000397910.4	-	3	24976	c.24773C>T	c.(24772-24774)tCc>tTc	p.S8258F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGAGGATTGACTAGG	0.502000													16	13					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016177	141016177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:141016177C>T	ENST00000277549.5	+	47	6897	c.4328C>T	c.(4327-4329)gCc>gTc	p.A1443V	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2247V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2248V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P2187S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2250V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2249V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2249					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGCCCCTGGCCCCTGGCTCT	0.657000													37	15					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370150	21370150	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21370150G>A	ENST00000256958.2	+	12	1691	c.1595G>A	c.(1594-1596)aGg>aAg	p.R532K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GCTTGTACAAGGAAATTTTAC	0.378000													23	39					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854112	12854112	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12854112C>T	ENST00000332296.7	+	3	439	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	112										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAGAATTTCTGGGCCAGAT	0.547000													27	234					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2274909	2274909	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:2274909A>C	ENST00000290974.2	-	10	2653	c.2314T>G	c.(2314-2316)Tta>Gta	p.L772V	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.L702V|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.L742V|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.L77V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	772					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCCTTCCTTAACTTTTCCTTG	0.552000													19	66					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437377	5437377	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5437377C>T	ENST00000380419.3	-	3	346	c.309G>A	c.(307-309)aaG>aaA	p.K103K	TUBAL3_ENST00000479328.1_Silent_p.K63K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	103					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGCATCCTCCTTTCCGCTAA	0.607000													56	99					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871625	31871625	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:31871625G>A	ENST00000396556.2	-	4	758	c.636C>T	c.(634-636)gcC>gcT	p.A212A	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	212					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CAACACCGGGGGCCCCCACAC	0.582000													16	30					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433280	73433280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:73433280C>T	ENST00000263666.4	-	10	2551	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGGGATCTTCCGTGATGGAG	0.652000													21	56					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791281	209791281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:209791281G>A	ENST00000391911.1	-	19	3411	c.3022C>T	c.(3022-3024)Ctt>Ttt	p.L1008F	LAMB3_ENST00000356082.4_Missense_Mutation_p.L1008F|LAMB3_ENST00000367030.3_Missense_Mutation_p.L1008F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1008	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATAAGCCGAAGGGAGCGGCTG	0.567000													19	52					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	255963	255963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:255963G>A	ENST00000397962.3	+	3	679	c.251G>A	c.(250-252)gGa>gAa	p.G84E	ZMYND11_ENST00000403354.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.G84E|ZMYND11_ENST00000397959.3_Missense_Mutation_p.G84E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.G67E|ZMYND11_ENST00000602682.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381604.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.G44E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.G84E			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	44					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAACAAGAAGGATATTGGTTG	0.373000													33	70					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084355	248084355	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248084355C>T	ENST00000319968.4	+	1	36	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATTTCATTCTCCTAGGACTCT	0.413000													27	37					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72756324	72756324	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72756324G>A	ENST00000325509.4	-	1	379	c.90C>T	c.(88-90)ccC>ccT	p.P30P	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	30					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGCCGCGGAGGGGCGGCCTCT	0.706000													10	12					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118281446	118281446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118281446C>T	ENST00000402510.2	-	2	399	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	134										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCCTGAATCCTGTTCTTGG	0.502000													20	26					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89179954	89179954	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:89179954C>T	ENST00000286614.6	-	4	934	c.653G>A	c.(652-654)gGa>gAa	p.G218E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	218					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATGGGTATCTCCTCCAATTCC	0.408000													28	39					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149012	34149012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149012G>A	ENST00000346193.3	-	1	1435	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	462										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCCCACAAGGGGATTTATGA	0.592000													22	56					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101881467	101881467	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:101881467C>T	ENST00000289382.3	+	4	1156	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GAATAATGGCCAAAGCCTTCA	0.393000													29	61					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849634	98849634	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:98849634C>T	ENST00000554295.1	-	0	1289					NR_033801.1																						GCGCCAGGATCATGCAGGAGA	0.478000													46	7					0	0	1	0	0
C1orf146	388649	broad.mit.edu	37	1	92707815	92707815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:92707815G>A	ENST00000370375.3	+	3	261	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CACAAAGTTCGATATTCAGAT	0.299000													16	27					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614052	158614052	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158614052G>A	ENST00000368148.3	-	30	4509	c.4329C>T	c.(4327-4329)atC>atT	p.I1443I	SPTA1_ENST00000368147.3_Silent_p.I1443I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1443					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGGGCAGTGATTGCTTTGT	0.373000													22	27					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384196	25384196	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:25384196C>T	ENST00000405623.1	-	3	1013	c.558G>A	c.(556-558)cgG>cgA	p.R186R	POMC_ENST00000264708.3_Silent_p.R186R|POMC_ENST00000395826.2_Silent_p.R186R|POMC_ENST00000380794.1_Silent_p.R186R			P01189	COLI_HUMAN	proopiomelanocortin	186					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CATCTCCCTCCCGGAGTCGCT	0.711000													9	12					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42906968	42906968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42906968C>T	ENST00000244289.4	-	9	3034	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	920					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCAGCCTCTTCCCCTGCATCC	0.627000													27	35					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100826920	100826920	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100826920G>A	ENST00000355338.2	-	4	1011	c.393C>T	c.(391-393)ttC>ttT	p.F131F	WARS_ENST00000556645.1_Silent_p.F90F|WARS_ENST00000392882.2_Silent_p.F131F|WARS_ENST00000344102.5_Silent_p.F90F|WARS_ENST00000358655.4_Silent_p.F90F|WARS_ENST00000557135.1_Silent_p.F131F|WARS_ENST00000554084.1_5'UTR	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	131					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTCTGCGCAGGAAGTGGTGTG	0.448000													33	68					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42862972	42862972	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42862972C>T	ENST00000334370.4	+	29	5643	c.5008C>T	c.(5008-5010)Cgg>Tgg	p.R1670W	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1737W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1737						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)				TGGCTCATCTCGGGGTCTGGG	0.617000													10	11					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26384039	26384039	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:26384039C>A	ENST00000356709.4	+	0	101				BTN2A2_ENST00000352867.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000469230.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000416795.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000432533.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000482536.1_De_novo_Start_OutOfFrame	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2						negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTCTGCCTGCCCTGGGTGCTC	0.612000													34	28					9.85521e-28	1.00815e-27	1	1	0
BRDT	676	broad.mit.edu	37	1	92446708	92446708	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:92446708C>T	ENST00000370389.2	+	10	2428	c.1504C>T	c.(1504-1506)Cta>Tta	p.L502L	BRDT_ENST00000362005.3_Silent_p.L575L|BRDT_ENST00000394530.3_Silent_p.L529L|BRDT_ENST00000402388.1_Silent_p.L575L|BRDT_ENST00000399546.2_Silent_p.L575L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCGGCATGTCTAAGAAAGAG	0.348000													29	31					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162903514	162903514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:162903514G>A	ENST00000360534.3	-	4	756	c.196C>T	c.(196-198)Cat>Tat	p.H66Y		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	66					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGATATTCATGATCTAAAGAG	0.294000													15	22					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055743	6055743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6055743C>T	ENST00000282924.5	-	13	2325	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.G614R|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.G449R|JAKMIP1_ENST00000409021.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	614	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTCTGCTCCGTTTGAGAGT	0.388000													25	91					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49692330	49692330	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49692330T>C	ENST00000252826.5	+	14	2127	c.2001T>C	c.(1999-2001)ttT>ttC	p.F667F	TRPM4_ENST00000427978.2_Silent_p.F667F|TRPM4_ENST00000355712.5_Silent_p.F313F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	667					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTGCCTTCTTTGCCCAGGATG	0.622000													25	46					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113723455	113723455	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113723455C>T	ENST00000545063.1	-	11	2154	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V	KIAA1407_ENST00000295878.3_Intron			Q8NCU4	K1407_HUMAN	KIAA1407	0										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGATAACAACCACCAAGGCCA	0.463000													36	62					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108431074	108431074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:108431074C>T	ENST00000263054.6	-	16	2117	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACTTCCGCTCTGATTTTCGC	0.438000													44	63					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96342814	96342814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96342814C>T	ENST00000348459.5	+	12	1429	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Intron|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Nonsense_Mutation_p.Q442*	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	442					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TATGCTGCACCAGGTTTTCCA	0.378000													29	43					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531002	92531002	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92531002G>A	ENST00000298047.6	+	9	4840	c.4822_splice	c.e9-1	p.G1608_splice	FAT3_ENST00000525166.1_Splice_Site_p.G1458_splice|FAT3_ENST00000409404.2_Splice_Site_p.G1608_splice			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1608	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATTTTAGGGAACACTGGG	0.408000										TCGA Ovarian(4;0.039)			39	44					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639725	156639725	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156639725C>T	ENST00000368223.3	-	4	4387	c.4255G>A	c.(4255-4257)Ggg>Agg	p.G1419R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1419	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ccctcctccccactttcttcc	0.652000													11	22					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135069477	135069477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:135069477G>A	ENST00000414802.1	-	10	1251	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	CNOT4_ENST00000473470.1_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000356162.4_Missense_Mutation_p.L418F|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000423368.2_Intron			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	418					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ggctctgtaaggtctgccttt	0.413000													11	15					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77134009	77134009	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:77134009C>T	ENST00000426216.2	+	28	3199	c.3182C>T	c.(3181-3183)aCc>aTc	p.T1061I	ATP9B_ENST00000543761.1_Missense_Mutation_p.T382I|ATP9B_ENST00000307671.7_Missense_Mutation_p.T1061I	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1061					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTGGCGCTGACCGTCCGCACG	0.567000													23	52					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917345	58917345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:58917345C>T	ENST00000423743.3	+	9	1136	c.878C>T	c.(877-879)cCt>cTt	p.P293L	KIAA0586_ENST00000261244.5_Missense_Mutation_p.P337L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P322L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P390L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	337								p.P337L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGAAATCTCCTTTGGAGACA	0.323000													14	23					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746055	94746055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:94746055G>A	ENST00000399300.2	-	3	2797	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.P742S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	862							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)			AAATTGTCAGGAAGTCTAGGG	0.522000													52	72					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778667	34778667	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34778667C>T	ENST00000338074.2	+	11	1409	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	EPB41L1_ENST00000373946.3_Silent_p.F385F|EPB41L1_ENST00000373941.1_Silent_p.F416F|EPB41L1_ENST00000441639.1_Silent_p.F354F|EPB41L1_ENST00000202028.5_Silent_p.F354F|EPB41L1_ENST00000373950.2_Silent_p.F319F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	416					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTGCACCCTTCTTTGAGCGTT	0.607000													16	27					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81930562	81930562	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81930562C>T	ENST00000438331.1	-	5	647	c.165G>A	c.(163-165)tcG>tcA	p.S55S	ANXA11_ENST00000537102.1_Silent_p.S22S|ANXA11_ENST00000360615.4_Silent_p.S55S|ANXA11_ENST00000372231.3_Silent_p.S55S|ANXA11_ENST00000265447.4_Silent_p.S55S|ANXA11_ENST00000535999.1_Silent_p.S55S|ANXA11_ENST00000422982.3_Silent_p.S55S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	55					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCACCATTCCCGAGAGATAGT	0.642000													24	50					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163959	161163959	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161163959G>A	ENST00000367996.4	-	5	1742	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	438	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTTGCCAGGGAAAGTCACAG	0.617000													34	44					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28964205	28964205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28964205C>T	ENST00000377179.3	-	7	1086	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CATTGATTCTCTAATTTGACA	0.398000													41	22					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62854480	62854480	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62854480T>C	ENST00000536311.1	+	15	2858	c.2494T>C	c.(2494-2496)Tgt>Cgt	p.C832R	MYT1_ENST00000328439.1_Missense_Mutation_p.C805R|MYT1_ENST00000360149.4_Missense_Mutation_p.C507R			Q01538	MYT1_HUMAN	myelin transcription factor 1	805					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCCTGGCTGTGACGGCAG	0.637000													57	97					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103481224	103481224	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103481224C>T	ENST00000358392.2	-	12	1841	c.1524_splice	c.e12+1	p.P508_splice	COL11A1_ENST00000512756.1_Splice_Site_p.P380_splice|COL11A1_ENST00000370096.3_Splice_Site_p.P496_splice|COL11A1_ENST00000353414.4_Splice_Site_p.P457_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	496	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGAACATACCGGTAACATCA	0.388000													3	10					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579282	44579282	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:44579282C>T	ENST00000289547.4	-	2	769	c.714G>A	c.(712-714)gaG>gaA	p.E238E	NPC1L1_ENST00000546276.1_Silent_p.E238E|NPC1L1_ENST00000381160.3_Silent_p.E238E|NPC1L1_ENST00000423141.1_Silent_p.E238E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	238					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTGCAACCCCCTCATTCAGAG	0.632000													54	59					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461410	66461410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461410C>T	ENST00000404260.3	+	29	6720	c.6412C>T	c.(6412-6414)Ccg>Tcg	p.P2138S	MAST4_ENST00000261569.7_Missense_Mutation_p.P1941S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2135S|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCATCCCTCCGCCCCCTCT	0.602000													6	17					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183515292	183515292	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183515292G>A	ENST00000367537.3	+	18	2706	c.2511G>A	c.(2509-2511)atG>atA	p.M837I	SMG7_ENST00000507469.1_Missense_Mutation_p.M808I|SMG7_ENST00000456731.2_Missense_Mutation_p.M766I|SMG7_ENST00000508461.1_Missense_Mutation_p.M812I|SMG7_ENST00000347615.2_Missense_Mutation_p.M854I|SMG7_ENST00000515829.2_Missense_Mutation_p.M808I			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	854	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTTTTCCCATGGAGCCATATA	0.453000													17	68					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690714	72690714	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72690714T>C	ENST00000341689.3	+	1	101	c.47T>C	c.(46-48)gTt>gCt	p.V16A	TMEM202_ENST00000567679.1_Missense_Mutation_p.V16A	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	16						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGTCCTGAGGTTCCCAAAATA	0.453000													8	18					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691537	90691537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:90691537G>A	ENST00000312600.3	+	2	1175	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PABPC5_ENST00000373105.1_Missense_Mutation_p.E157K	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	321	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACTGAAGGAGGAATTTTCTTC	0.438000													33	73					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114036	56114036	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56114036C>T	ENST00000279783.2	+	1	616	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AACTGTCCTTCTGTGGCTCAA	0.353000										HNSCC(65;0.19)			53	74					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85147360	85147360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:85147360G>A	ENST00000448803.2	+	2	494	c.202G>A	c.(202-204)Gag>Aag	p.E68K	ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E68K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E68K|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E68K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	68	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCCCAGGAGGAGGTGACCAG	0.642000													9	17					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162748417	162748417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162748417G>T	ENST00000367922.2	+	18	2769	c.2331G>T	c.(2329-2331)ttG>ttT	p.L777F	DDR2_ENST00000367921.3_Missense_Mutation_p.L777F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	777	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGGTTACTTTGTGGGAGACTT	0.443000													42	69					6.68952e-21	6.8285e-21	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36113526	36113526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36113526C>T	ENST00000203166.5	+	18	1700	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	559					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCAGGCATCCCAGGAAAAACA	0.557000													15	25					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961393	34961393	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34961393G>C	ENST00000329357.5	+	1	481	c.445G>C	c.(445-447)Gtg>Ctg	p.V149L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	149										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCTACTACAGGTGCTGAAACA	0.557000													32	50					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128682	161128682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:161128682G>A	ENST00000523217.1	+	9	1477	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	GABRA6_ENST00000274545.5_Missense_Mutation_p.R422Q	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	422					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTATTCTCGAATTCTCTTC	0.458000										TCGA Ovarian(5;0.080)			24	45					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90141417	90141417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90141417G>A	ENST00000449207.2	-	3	227	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PRDM7_ENST00000569206.1_5'UTR|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	70	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAAGCTGGTCGAGTGGCTCTG	0.493000													16	36					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285010	152285010	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152285010C>T	ENST00000368799.1	-	3	2387	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	784	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACCTTTCCCCTGACCGGT	0.562000									Ichthyosis				62	223					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237730043	237730043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237730043G>A	ENST00000366574.2	+	28	3708	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1129N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1115N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1131	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTGGCTCAGATGAACGTGC	0.537000													131	30					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414581	1414581	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1414581C>T	ENST00000446702.2	+	14	2355	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	CNTN6_ENST00000539053.1_Silent_p.L504L|CNTN6_ENST00000350110.2_Silent_p.L576L			Q9UQ52	CNTN6_HUMAN	contactin 6	576	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAAATATCTCTGCACAGTAC	0.373000													39	64					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81921761	81921761	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81921761G>A	ENST00000438331.1	-	13	1592	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ANXA11_ENST00000537102.1_Silent_p.N337N|ANXA11_ENST00000360615.4_Silent_p.N370N|ANXA11_ENST00000372231.3_Silent_p.N370N|ANXA11_ENST00000265447.4_Silent_p.N370N|ANXA11_ENST00000535999.1_Silent_p.N370N|ANXA11_ENST00000422982.3_Silent_p.N370N	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	370					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCCCAGGCGGTTCTCCCCGG	0.652000											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	31					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019697	74019697	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74019697G>A	ENST00000301607.3	-	3	490	c.237C>T	c.(235-237)caC>caT	p.H79H	EVPL_ENST00000586740.1_Silent_p.H79H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	79	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCTGCTGGTGCTGCAGGG	0.687000													4	11					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643045	1643045	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1643045G>A	ENST00000399682.1	-	1	323	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	93	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGACACAGC	0.687000													12	98					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29621206	29621206	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29621206G>A	ENST00000334018.6	+	4	591		c.e4+1		EMID1_ENST00000484039.1_Splice_Site|EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000404820.3_Splice_Site	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GCCTTCTCAGGTGGGTCCTGG	0.622000													24	40					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72357844	72357844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:72357844C>T	ENST00000441259.1	-	3	1793	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PRF1_ENST00000373209.2_Missense_Mutation_p.E545K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	545					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTGGAGGCTCCCCCAGAAGC	0.587000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				18	33					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:39977494C>T	ENST00000373257.3	+	4	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	175					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567000													9	12					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25263318	25263318	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:25263318G>A	ENST00000328086.7	-	4	1520	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	239	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTTCTGTAGGAAAAGCCTC	0.488000													36	66					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30747679	30747679	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30747679C>T	ENST00000262518.4	+	32	7273	c.6888C>T	c.(6886-6888)tcC>tcT	p.S2296S	SRCAP_ENST00000344771.4_Silent_p.S2138S|SRCAP_ENST00000395059.2_Silent_p.S2234S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2296	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAGATGTCCCGGGCTGAGC	0.557000													27	38					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145524196	145524196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145524196C>A	ENST00000394434.2	-	16	1746	c.1580G>T	c.(1579-1581)tGt>tTt	p.C527F	LARS_ENST00000274562.9_Missense_Mutation_p.C500F|LARS_ENST00000545646.1_Missense_Mutation_p.C481F|LARS_ENST00000510191.1_Missense_Mutation_p.C473F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	527					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCACTGGTCACACAGAGCCAC	0.393000													24	46					4.59853e-10	4.64019e-10	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801789	20801789	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:20801789G>A	ENST00000359062.3	+	13	2773	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	911	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGACCTGAAGAAACACTTTG	0.363000													30	69					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627285	21627285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21627285G>A	ENST00000425654.2	+	19	2632	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	CNKSR2_ENST00000379510.3_Missense_Mutation_p.E748K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E699K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E748K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	748					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTTTCGCCAGGAAGTAACTGG	0.522000													63	71					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56047458	56047458	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56047458C>T	ENST00000413299.1	-	2	241	c.204G>A	c.(202-204)ctG>ctA	p.L68L	SBK2_ENST00000344158.3_Silent_p.L68L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	68	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AACCCTGGCCCAGGGGACGCA	0.672000													10	18					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115338533	115338533	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:115338533G>A	ENST00000351270.3	+	7	812	c.716G>A	c.(715-717)gGg>gAg	p.G239E	HABP2_ENST00000541666.1_Missense_Mutation_p.G239E|HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.G213E	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	239	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAAACCCATGGGATTGGGGAA	0.408000													27	55					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155095	5155095	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:5155095G>A	ENST00000252321.3	+	1	2011	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	594						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGAGCAACGTGGACTTGCGGA	0.577000													17	14					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57676316	57676316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:57676316G>A	ENST00000413566.2	-	17	2266	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	EXOC5_ENST00000340918.7_Missense_Mutation_p.A571V	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	636					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCTATATTCGGCTACATCACA	0.388000													10	19					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848616	72848616	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72848616G>A	ENST00000293190.5	-	3	680	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRIN2C_ENST00000347612.4_Silent_p.F178F|GRIN2C_ENST00000578159.1_5'UTR	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	178					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CGCCCTCCAGGAAGAGCGCGT	0.716000													6	11					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491492	151491492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151491492C>T	ENST00000271636.7	+	2	630	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	160	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGCTTCCCCAGGTAGCACC	0.602000													19	76					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227713	38227713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:38227713G>A	ENST00000373048.4	-	3	213	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R72C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R72C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	72						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R72C(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGTACGTGCGGATGGGACGG	0.612000													22	57					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077804	19077804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:19077804C>T	ENST00000329773.2	-	2	233	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	49					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GAGCACAAACCCGTTTCCTAC	0.582000													43	100					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891406	6891406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6891406C>T	ENST00000307322.4	+	1	483	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCAGGCTTTCCTGTAGCTAC	0.542000													66	86					0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23408343	23408343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:23408343C>T	ENST00000376510.3	+	4	510	c.407C>T	c.(406-408)tCg>tTg	p.S136L	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	136					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CTGGATACCTCGTTAGGATCA	0.522000													25	47					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060748	189060748	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:189060748G>A	ENST00000332517.3	+	1	176	c.36G>A	c.(34-36)gaG>gaA	p.E12E		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	12					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACCTCAGGGAGGAACTCACCT	0.527000													26	88					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513434	14513434	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14513434C>T	ENST00000242786.5	+	12	1289	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	CD97_ENST00000358600.3_Silent_p.S310S|CD97_ENST00000357355.3_Silent_p.S354S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCATCCTCTCCATCCAGAACA	0.577000													42	69					0	0	1	0	0
IFI27L2	83982	broad.mit.edu	37	14	94595900	94595900	+	Translation_Start_Site	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94595900A>G	ENST00000238609.3	-	1	101	c.2T>C	c.(1-3)aTg>aCg	p.M1T	IFI27L2_ENST00000556727.1_Intron	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	1						integral to membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CTCACTCATCATGGTGAGGCC	0.627000													26	47					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32586942	32586942	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:32586942G>A	ENST00000400236.3	-	5	1889	c.684C>T	c.(682-684)tcC>tcT	p.S228S	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.S228S|RFPL2_ENST00000400237.1_Silent_p.S318S|RFPL2_ENST00000248980.4_Silent_p.S257S	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	318	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CATCAAAAAAGGAAACGTTCT	0.512000													13	45					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539170	86539170	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:86539170C>T	ENST00000450689.2	-	16	2502	c.2317G>A	c.(2317-2319)Gcc>Acc	p.A773T	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A702T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A606T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A533T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	773						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATGATAAGGCTGCTCGGAAA	0.368000													62	83					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29158443	29158443	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29158443C>T	ENST00000407426.3	+	12	1550	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	498						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TAAGGATGCCCCTGCATACTA	0.333000													25	44					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134136313	134136313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:134136313G>A	ENST00000372271.3	-	2	1115	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	250										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCGCTGGGCGGGATGGGCTCA	0.687000													92	20					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25474168	25474168	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:25474168C>T	ENST00000453082.2	+	0	1370				SNORD115-32_ENST00000364079.1_RNA	NR_003343.1																						ACTTAAAAATCATGTTCAATA	0.488000													103	161					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866938	103866938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:103866938G>A	ENST00000302251.5	-	3	798	c.347C>T	c.(346-348)aCc>aTc	p.T116I	PDGFD_ENST00000393158.2_Missense_Mutation_p.T122I	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	122	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AATGGTACTGGTTTCGGATAT	0.343000													16	33					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333131	36333131	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36333131C>A	ENST00000378910.5	-	19	2557	c.2558G>T	c.(2557-2559)gGa>gTa	p.G853V	NPHS1_ENST00000353632.6_Missense_Mutation_p.G853V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	853	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGCTGTCTCCAGCTGCAGC	0.592000													6	14					3.59834e-05	3.61239e-05	1	1	0
NPAS4	266743	broad.mit.edu	37	11	66190641	66190641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66190641C>T	ENST00000311034.2	+	5	922	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	249	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTTTGTAAATCATGGTATGGA	0.537000													4	11					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67228767	67228767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67228767C>T	ENST00000379378.3	+	6	751	c.692C>T	c.(691-693)cCt>cTt	p.P231L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	231					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGCCCAAGCCTGCCCTAGCC	0.607000													24	48					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35711042	35711042	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35711042A>C	ENST00000314888.9	-	31	4410	c.4057T>G	c.(4057-4059)Tgc>Ggc	p.C1353G	TLN1_ENST00000540444.1_Missense_Mutation_p.C1353G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1353	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGGGTGCACATAGTGATG	0.517000													23	21					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:129292537C>T	ENST00000393239.1	-	13	2915	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	PLXND1_ENST00000324093.4_Missense_Mutation_p.G913R			Q9Y4D7	PLXD1_HUMAN	plexin D1	913	IPT/TIG 1.				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						AGGTTCCTTCCTCGGATGGTC	0.657000													15	22					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457388	42457388	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42457388G>A	ENST00000262407.5	-	17	1765	c.1734C>T	c.(1732-1734)acC>acT	p.T578T	ITGA2B_ENST00000353281.4_Silent_p.T578T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	578					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGCCATGGTGGTGTGGCAGA	0.642000													18	22					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50392780	50392780	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50392780C>T	ENST00000266025.3	-	2	1596	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	350					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGAGTTACAGCGTCGGGGGAG	0.632000													6	47					0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116808	31116808	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:31116808G>A	ENST00000261177.9	+	3	191	c.132G>A	c.(130-132)gaG>gaA	p.E44E	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000544427.1_Silent_p.E34E|TSPAN11_ENST00000546076.1_Silent_p.E44E	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	44						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)					CCCTGGTGGAGAAGAGTGGCT	0.667000													45	74					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266939	107266939	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:107266939C>T	ENST00000334726.2	+	1	485	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTGAGATACCCTGTCATCA	0.547000													40	11					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459360	141459360	+	Silent	SNP	C	C	T	rs139951414	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141459360C>T	ENST00000389484.3	-	40	7328	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2119					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)		TCATGGTTATCGTTTCTGTGG	0.413000										TSP Lung(27;0.18)			24	52					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735408	109735408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109735408C>T	ENST00000369939.3	+	14	2042	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S533F	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	620					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACCTGCCACTCCTGCCCCACT	0.552000													32	90					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37473323	37473323	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:37473323G>A	ENST00000002125.4	+	8	961	c.921G>A	c.(919-921)aaG>aaA	p.K307K	NDUFAF7_ENST00000336237.6_Silent_p.K209K|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		ATGGAACAAAGACAGATACCT	0.403000													25	48					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55559721	55559721	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55559721G>A	ENST00000294383.6	-	52	6242	c.6243C>T	c.(6241-6243)tcC>tcT	p.S2081S	USP24_ENST00000407756.1_Silent_p.S1921S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2081					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGGGCCGAGGGGATGACTGAG	0.438000													8	18					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239801	114239801	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:114239801T>C	ENST00000371936.1	-	10	1324	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	IL13RA2_ENST00000243213.1_Missense_Mutation_p.T359A			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	359						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGCAGACCGGTTACAAATATA	0.353000													48	53					0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6729643	6729643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6729643C>T	ENST00000329858.4	-	2	1528	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	258						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGCAGCAGCCCGTAGACCGCC	0.692000													3	4					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878004	76878004	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:76878004G>A	ENST00000328299.3	+	3	673	c.525G>A	c.(523-525)aaG>aaA	p.K175K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	175					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGTTGAAAAAGACAGTTGGTA	0.398000													16	60					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278455	89278455	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:89278455C>T	ENST00000390247.2	-	0	145																											TTCCCCTCACCTGGGAGCCAG	0.498000													26	53					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459377	100459377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100459377C>T	ENST00000354161.3	+	12	1680	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R430W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R430W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	519						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTATCTGCTTCGGCTGGACGT	0.647000													61	95					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136647	96136647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:96136647G>A	ENST00000324765.8	+	5	864	c.517G>A	c.(517-519)Ggt>Agt	p.G173S	DIAPH2_ENST00000373061.3_Missense_Mutation_p.G173S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G169S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G173S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G173S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	173	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATTACGATCGGGTATATCAGA	0.383000													30	44					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78977832	78977832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:78977832G>A	ENST00000453514.1	+	14	2021	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	PAPD4_ENST00000296783.3_Missense_Mutation_p.R443K|PAPD4_ENST00000504233.1_Missense_Mutation_p.R400K|PAPD4_ENST00000423041.2_Missense_Mutation_p.R439K|PAPD4_ENST00000428308.2_Missense_Mutation_p.R443K	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	443					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AATACAGCCAGAGCAGTGCAC	0.313000													13	19					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22173807	22173807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22173807G>A	ENST00000356766.6	+	19	2406	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	753	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCAGTAGAGGCATGCGCTCC	0.418000													10	26					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244734	56244734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56244734C>T	ENST00000332836.2	-	2	490	c.463G>A	c.(463-465)Gga>Aga	p.G155R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	155	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCAATTCCATCAGGACCT	0.413000													29	45					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238266485	238266485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:238266485C>T	ENST00000295550.4	-	22	6964	c.6512G>A	c.(6511-6513)gGa>gAa	p.G2171E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1564E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1965E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1970E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1965E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1971E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2171	Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCGGTTTCTCCTTTGGGTCC	0.542000													107	60					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101782716	101782716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101782716G>A	ENST00000375001.3	+	12	2116	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	565	Triple-helical region 1 (COL1).				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)				TGGGCCCAAAGGAGAAAAGGT	0.453000													18	16					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51112497	51112497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:51112497G>A	ENST00000301180.5	+	24	2891	c.2857G>A	c.(2857-2859)Ggc>Agc	p.G953S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	953						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TACAGGTGTAGGCCCTGCTTC	0.448000													10	20					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059773	141059773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141059773G>A	ENST00000239440.4	-	2	346	c.281C>T	c.(280-282)cCc>cTc	p.P94L	ARAP3_ENST00000508305.1_Missense_Mutation_p.P16L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	94	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCGGCACGGGCTTAGGGGG	0.657000													35	49					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74995355	74995355	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74995355C>T	ENST00000261978.4	-	12	2585	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	LTBP2_ENST00000556690.1_Silent_p.A733A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	733					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTCGGAGCTCGCGTAGGTGT	0.637000													26	47					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5164241	5164241	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:5164241T>C	ENST00000256496.3	+	1	337	c.91T>C	c.(91-93)Tcg>Ccg	p.S31P	ARL8B_ENST00000419534.2_Missense_Mutation_p.S31P	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	31					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GCTGCAGTACTCGGGCAAGAC	0.667000													13	23					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099936	50099936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099936C>T	ENST00000418929.2	+	4	2356	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	477							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCATGGCCTCCTTCTGGAGGC	0.716000													12	24					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063613	58063613	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:58063613C>T	ENST00000339762.6	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGTTCATCCATGACAGACA	0.443000													15	21					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037639	64037639	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64037639G>A	ENST00000544785.1	-	2	358	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						TGGCTGCCCAGGGCAGTGGGA	0.597000													14	15					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27823643	27823643	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27823643C>T	ENST00000355467.4	+	6	626	c.543C>T	c.(541-543)acC>acT	p.T181T	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.T180T|ZNF512_ENST00000416005.2_Silent_p.T152T|ZNF512_ENST00000413371.2_Silent_p.T104T			Q96ME7	ZN512_HUMAN	zinc finger protein 512	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGAGGAAGACCATAGAGGGTT	0.423000													31	47					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168250508	168250508	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:168250508G>A	ENST00000367821.3	+	1	231	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	60					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCACTAATGAGATGATTGTGA	0.532000													18	56					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553842	113553842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:113553842G>A	ENST00000546530.1	-	10	1031	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CACTCGCAGGGCACCCAGGTT	0.577000													48	18					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571960	101571960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:101571960G>A	ENST00000326172.5	+	5	705	c.590G>A	c.(589-591)gGg>gAg	p.G197E	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97E|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197E	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CCAACGCCCGGGGAGAGCATG	0.438000													31	50					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120481450	120481450	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:120481450C>T	ENST00000354960.3	-	7	1519		c.e7+1		PDE5A_ENST00000264805.5_Splice_Site|PDE5A_ENST00000394439.1_Splice_Site	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific						platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CGTGCTTTTACCTTGTTAATG	0.308000													14	13					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488039	24488039	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488039C>T	ENST00000264463.4	-	12	2607	c.2100G>A	c.(2098-2100)agG>agA	p.R700R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTAGGAGTCCTCCGAGGAA	0.498000										HNSCC(23;0.051)			33	43					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382996	56382996	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56382996T>A	ENST00000355701.3	-	28	6136	c.5266A>T	c.(5266-5268)Aag>Tag	p.K1756*	BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.K1696*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.K1756*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1756						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGACCAGCTTAGGGGGGCCT	0.612000													4	8					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000355180.3_Silent_p.I179I|TRPC7_ENST00000426057.2_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000													67	88					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237895414	237895414	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237895414C>T	ENST00000366574.2	+	78	11321	c.11004C>T	c.(11002-11004)atC>atT	p.I3668I	RYR2_ENST00000360064.6_Silent_p.I3666I|RYR2_ENST00000542537.1_Silent_p.I3652I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3668					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAGCTGATCCTTCTGTTTA	0.423000													36	11					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636150	74636150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74636150C>T	ENST00000358632.4	-	4	1030	c.335G>A	c.(334-336)tGg>tAg	p.W112*	CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.W112*|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Nonsense_Mutation_p.W270*	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	270					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AATCACGTCCCATGCAGCCAC	0.577000													89	126					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249646	52249646	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52249646C>G	ENST00000595042.1	-	3	743	c.602G>C	c.(601-603)aGa>aCa	p.R201T	FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	201					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGATGCCTCTCACCGTCAA	0.507000													38	68					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146252	70146252	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:70146252A>C	ENST00000335568.5	+	1	36	c.34A>C	c.(34-36)Ata>Cta	p.I12L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.I12L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	12					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTTCTGCTGATACATCTCGG	0.413000													67	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416808	179416808	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179416808C>T	ENST00000589042.1	-	335	91043	c.90819G>A	c.(90817-90819)aaG>aaA	p.K30273K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.K27705K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.K28632K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K21333K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.K21400K|TTN_ENST00000460472.2_Silent_p.K21208K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28632	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACACACCATCTTCCAGTTAG	0.423000													36	50					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179593248	179593248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179593248C>T	ENST00000467460.1	-	6	853	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	PEX5L_ENST00000485199.1_Missense_Mutation_p.E140K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E132K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E151K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E67K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.E67K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E173K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E116K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	175					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCATTTTTCCAGTTGTGTT	0.517000													18	33					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46320382	46320382	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:46320382G>A	ENST00000397850.2	-	8	1202	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000397857.1_Silent_p.I250I|ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I|ITGB2_ENST00000355153.4_Silent_p.I250I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	250	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647000													35	15					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45747965	45747965	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:45747965C>G	ENST00000297323.7	+	18	2856	c.2834C>G	c.(2833-2835)tCc>tGc	p.S945C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	945					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAGTCCATCTCCTCCCACCTG	0.527000													15	36					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735280	13735280	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13735280C>T	ENST00000265104.4	-	68	11825	c.11721G>A	c.(11719-11721)agG>agA	p.R3907R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3907					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACTCGGTTCCTCTGGATGT	0.438000									Kartagener syndrome				27	43					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929891	24929891	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:24929891C>T	ENST00000405141.1	+	14	2263	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	NCOA1_ENST00000538539.1_Missense_Mutation_p.P518S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P518S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P518S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P518S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P367S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P518S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	518	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAAGCTCTCCCGTTGGCAT	0.418000			T	PAX3	alveolar rhadomyosarcoma								33	70					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128976645	128976645	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128976645C>T	ENST00000314797.6	+	10	917	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	271					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										ATGAAGCCGCCTCGGCCATCG	0.557000													80	134					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642401	104642401	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104642401G>A	ENST00000315264.7	+	11	3237	c.2859G>A	c.(2857-2859)gaG>gaA	p.E953E	KIF26A_ENST00000423312.2_Silent_p.E1092E			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1092					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGCCCCTGAGGGGGGGCCCC	0.682000													3	4					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38956791	38956791	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38956791G>A	ENST00000355481.4	+	24	3062	c.2931G>A	c.(2929-2931)acG>acA	p.T977T	RYR1_ENST00000360985.3_Silent_p.T977T|RYR1_ENST00000359596.3_Silent_p.T977T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	977	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCGGCTGACGCCGGCGCAGA	0.657000													10	13					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468332	35468332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:35468332G>A	ENST00000381151.3	+	2	1347	c.835G>A	c.(835-837)Gac>Aac	p.D279N	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	279						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTGGTGTGCTGACCAAGTCAT	0.488000													44	22					0	0	1	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929340	40929340	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40929340C>T	ENST00000357949.4	-	2	272	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCACGGCCGGGGGTGCCT	0.642000													15	25					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245462	33245462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33245462C>T	ENST00000451237.1	+	1	546	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	89					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAGAGAAACGCCATTCGGGCT	0.657000													5	94					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19493610	19493610	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:19493610C>T	ENST00000375267.2	-	29	4018	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	UBR4_ENST00000375254.3_Missense_Mutation_p.G1339S|UBR4_ENST00000375217.2_Missense_Mutation_p.G1339S|UBR4_ENST00000375226.2_Missense_Mutation_p.G1339S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1339					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)		TCAGCAGGGCCCAAGATGCGT	0.493000													35	33					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37354507	37354507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:37354507C>T	ENST00000310758.4	-	4	786	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	ELMO1_ENST00000442504.1_Missense_Mutation_p.E47K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E47K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	47					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAAAATATTCATGGTTGGCA	0.328000													29	40					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76874400	76874400	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76874400C>T	ENST00000373344.5	-	21	5536	c.5322G>A	c.(5320-5322)aaG>aaA	p.K1774K	ATRX_ENST00000395603.3_Silent_p.K1736K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1774					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTGAACTCCTTAATGGATC	0.318000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						29	37					0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11470547	11470547	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11470547C>T	ENST00000251473.5	+	5	682	c.306C>T	c.(304-306)gcC>gcT	p.A102A	DKFZP761J1410_ENST00000591608.1_Silent_p.A77A	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CACCTTCAGCCGTCCCAGTCA	0.647000													21	10					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134470	96134470	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:96134470G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CAGATCACGGGAATTACAAGT	0.418000			T	TRA@	T-ALL								26	53					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	169931580	169931580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:169931580G>A	ENST00000328939.4	+	1	541	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000390656.4_Missense_Mutation_p.G2R|KCNIP1_ENST00000411494.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000434108.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000377360.4_Intron	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	2					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTGCCATGGGGGCCGTCAT	0.582000													29	41					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42824479	42824479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42824479C>T	ENST00000315005.3	+	11	997	c.859C>T	c.(859-861)Cga>Tga	p.R287*	DBF4B_ENST00000393547.2_Nonsense_Mutation_p.R287*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	287					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GCCAAGCCCACGATCAGCTGC	0.592000													34	81					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43227345	43227345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43227345C>T	ENST00000259750.4	+	12	1408	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	TTBK1_ENST00000304139.5_Missense_Mutation_p.P391L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	442						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGACTCCCCCACAACCCCA	0.667000													6	6					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68517757	68517757	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68517757G>A	ENST00000443940.2	-	2	458	c.372C>T	c.(370-372)ttC>ttT	p.F124F	MTL5_ENST00000255087.5_Silent_p.F124F|MTL5_ENST00000544963.1_Silent_p.F124F			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	124					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCGAGGACAGGAAGTGCACGT	0.736000													5	7					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800481	67800481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67800481C>T	ENST00000544246.1	-	2	2783	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	PCDH9_ENST00000377865.2_Missense_Mutation_p.A698T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A698T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A698T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A698T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	698	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAACTTCTGCTACCACGGAG	0.448000													39	59					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585974	120585974	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120585974G>A	ENST00000300648.6	-	37	4735	c.4723C>T	c.(4723-4725)Ctg>Ttg	p.L1575L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1575					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTACCCAGGATCTCCGGG	0.587000													7	35					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1047651	1047651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:1047651C>T	ENST00000263094.6	+	16	2498	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L	ABCA7_ENST00000435683.2_Missense_Mutation_p.P618L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P756L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	756					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTGTGCCCAGGTGGGCCG	0.711000													6	4					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716090	1716090	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:1716090G>A	ENST00000397412.3	+	15	2868	c.2769G>A	c.(2767-2769)cgG>cgA	p.R923R	CRAMP1L_ENST00000436138.3_Silent_p.R920R|CRAMP1L_ENST00000293925.5_Silent_p.R923R|CRAMP1L_ENST00000262317.4_Silent_p.R301R|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	923						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTTCGTTCCGGCCCATCCAGT	0.632000													4	9					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11774278	11774278	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:11774278G>A	ENST00000381486.2	+	29	5313	c.5013G>A	c.(5011-5013)agG>agA	p.R1671R	GREB1_ENST00000234142.5_Silent_p.R1671R|GREB1_ENST00000396123.1_Silent_p.R669R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1671						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGTCGGAAAGGAACGTGTCTT	0.617000													35	73					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837951	29837951	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29837951C>T	ENST00000354373.2	+	2	1003	c.794C>T	c.(793-795)tCc>tTc	p.S265F	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	265	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GAAGGTGGTTCCCATGTCTAT	0.473000													27	45					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578792	169578792	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169578792A>G	ENST00000263686.6	-	8	1320	c.1283T>C	c.(1282-1284)gTt>gCt	p.V428A	SELP_ENST00000367792.2_Missense_Mutation_p.V366A|SELP_ENST00000367794.2_Missense_Mutation_p.V366A|SELP_ENST00000458599.2_Missense_Mutation_p.V366A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.V366A|SELP_ENST00000367786.2_Missense_Mutation_p.V366A|SELP_ENST00000367788.2_Missense_Mutation_p.V366A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	428	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATCACACCGAACTATATCGGC	0.498000													15	46					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166355	71166355	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:71166355C>T	ENST00000357585.2	+	2	1266	c.897C>T	c.(895-897)gtC>gtT	p.V299V	SSTR2_ENST00000315332.2_Silent_p.V299V|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	299					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGTGGTGGTCCTCACCTATG	0.493000													35	50					0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131900308	131900308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:131900308C>T	ENST00000368087.3	+	3	327	c.188C>T	c.(187-189)cCc>cTc	p.P63L	ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000476845.1_Missense_Mutation_p.P63L|ARG1_ENST00000356962.2_Missense_Mutation_p.P71L|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	63					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AATGACAGTCCCTTTCAAATT	0.428000													23	15					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11489349	11489349	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11489349G>A	ENST00000592375.2	-	7	1037	c.933C>T	c.(931-933)gtC>gtT	p.V311V	EPOR_ENST00000222139.6_Intron			P19235	EPOR_HUMAN	erythropoietin receptor	0						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCACTGAGGGGACAACCAGGC	0.567000													27	20					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647518	33647518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:33647518C>T	ENST00000558425.1	-	2	81	c.82G>A	c.(82-84)Gga>Aga	p.G28R																								ACCAAGCCTCCCCCAGACTCC	0.562000													34	70					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56448301	56448301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56448301G>A	ENST00000584437.1	-	2	2301	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	RNF43_ENST00000577716.1_Missense_Mutation_p.P116S|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116S|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	116						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGGCGGGGGGCCCGTCGA	0.602000													24	42					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605029	140605029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140605029C>T	ENST00000239449.4	+	1	1952	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P498L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		651	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCTCGCTCGGCC	0.726000													21	17					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80046140	80046140	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:80046140G>A	ENST00000306749.2	-	17	2855	c.2637C>T	c.(2635-2637)acC>acT	p.T879T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	879					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GACCGTCGAGGGTGTGGTCCA	0.677000													21	23					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795098	100795098	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100795098C>T	ENST00000361529.3	+	5	441	c.363C>T	c.(361-363)gtC>gtT	p.V121V	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	121					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						TGGCCAAAGTCCGCTTGCAGA	0.677000													28	43					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44191151	44191151	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:44191151G>A	ENST00000395510.2	-	7	843	c.714C>T	c.(712-714)ttC>ttT	p.F238F	TWF1_ENST00000548315.1_Silent_p.F245F|TWF1_ENST00000325127.4_Silent_p.F272F|TWF1_ENST00000552521.1_Silent_p.F140F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	238	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATACAGAAAGAAATGGTAAC	0.313000													23	54					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848478	92848478	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92848478C>T	ENST00000394468.2	-	2	443	c.366G>A	c.(364-366)gtG>gtA	p.V122V	HEPACAM2_ENST00000341723.4_Silent_p.V110V|HEPACAM2_ENST00000440868.1_Silent_p.V110V|HEPACAM2_ENST00000453812.2_Silent_p.V145V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	122						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGACCTTCACGATGTAAT	0.478000													37	32					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68716966	68716966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:68716966G>A	ENST00000303145.7	-	5	774	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	MDM1_ENST00000411698.2_Missense_Mutation_p.H185Y|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	230						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCAGTTTCATGGATGACTGAG	0.299000													19	44					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60892578	60892578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60892578G>A	ENST00000347785.3	+	9	1520	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	452					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGTGGATAACGAATACAGCCA	0.607000													14	33					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151396657	151396657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151396657G>A	ENST00000271715.2	-	9	1605	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	POGZ_ENST00000368863.2_Missense_Mutation_p.P336S|POGZ_ENST00000361398.3_Missense_Mutation_p.P378S|POGZ_ENST00000531094.1_Missense_Mutation_p.P369S|POGZ_ENST00000491586.1_Missense_Mutation_p.P378S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.P422S|POGZ_ENST00000392723.1_Missense_Mutation_p.P378S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	431					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCAACAGGAGCTGTTTTC	0.517000													27	77					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173408	113173408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113173408G>A	ENST00000401783.2	-	37	6919	c.6583C>T	c.(6583-6585)Cct>Tct	p.P2195S	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P121S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2195	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCGGTATAGGACTACTCCAC	0.502000													29	23					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117712611	117712611	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:117712611G>A	ENST00000276204.6	+	13	1586		c.e13+1		DOCK11_ENST00000276202.7_Splice_Site|DOCK11_ENST00000498252.1_Splice_Site			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCCAGTAAAGGTAATTTATAA	0.328000													21	30					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148928	34148928	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34148928T>C	ENST00000346193.3	-	1	1519	c.1468A>G	c.(1468-1470)Agt>Ggt	p.S490G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	490										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTGGAGACTGGACCTCCGA	0.642000													34	87					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154246418	154246418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154246418C>T	ENST00000328703.7	+	3	698	c.485C>T	c.(484-486)tCc>tTc	p.S162F	HAX1_ENST00000532105.1_Missense_Mutation_p.S34F|HAX1_ENST00000457918.2_Missense_Mutation_p.S114F|HAX1_ENST00000483970.2_Missense_Mutation_p.S170F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	162	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACTGGGGCTCCCAGAGGCCA	0.527000									Kostmann syndrome				36	33					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14031425	14031425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14031425C>T	ENST00000318003.7	+	13	1653	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P471L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	471					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCAAGAACTCCCCAGTCGGGA	0.622000													8	12					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6950940	6950940	+	Silent	SNP	G	G	A	rs150815120		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:6950940G>A	ENST00000389658.3	-	58	8331	c.8238C>T	c.(8236-8238)ttC>ttT	p.F2746F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2746	Laminin G-like 4.			F -> L (in Ref. 4).	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTGGAGGCGAACGTGCGGA	0.507000													11	19					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675103	40675103	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40675103G>A	ENST00000416151.2	+	1	182	c.67G>A	c.(67-69)Gat>Aat	p.D23N	KNSTRN_ENST00000448395.2_Missense_Mutation_p.D23N|KNSTRN_ENST00000249776.8_Missense_Mutation_p.D23N	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TACAGAGTGCGATTCCCACCC	0.567000													19	35					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473764	53473764	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53473764C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TATCAATTTTCCCTTTGCTCT	0.368000													22	46					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148786056	148786056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148786056C>T	ENST00000310053.5	-	8	1154	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	HLTF_ENST00000392912.2_Missense_Mutation_p.E321K|HLTF_ENST00000494055.1_Missense_Mutation_p.E321K|HLTF_ENST00000465259.1_Missense_Mutation_p.E321K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	321					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTAACTCTTTCAATAGGAAGA	0.328000													52	101					0	0	1	0	0
LHB	3972	broad.mit.edu	37	19	49519457	49519457	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49519457G>A	ENST00000221421.2	-	3	293	c.294C>T	c.(292-294)ccC>ccT	p.P98P		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	98					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGAGACCACGGGGTCCACAC	0.677000													39	70					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73450305	73450305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:73450305G>A	ENST00000224721.6	+	19	2160	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	CDH23_ENST00000299366.7_Missense_Mutation_p.E759K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	714	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.E719K(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACTCCTTGGAAGGCTCCAC	0.622000													6	11					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829728	14829728	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14829728G>A	ENST00000292530.6	+	12	1680	c.1589G>A	c.(1588-1590)gGg>gAg	p.G530E	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.G421E	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ATACACACAGGGGAGAAACTG	0.522000													16	46					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40091559	40091559	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40091559G>A	ENST00000591658.1	+	0	272							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GATCCCTGAAGGATGCTGAGG	0.527000													17	23					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708406	29708406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29708406C>T	ENST00000406549.3	+	6	1435	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	656					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCCGCCGCCCCTCCGGACC	0.672000													12	19					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187872	37187872	+	RNA	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:37187872A>G	ENST00000425901.2	+	0	1714					NR_033753.2																						TCACAGTTCAACCTTTGGATC	0.488000													20	34					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224579	44224579	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44224579G>A	ENST00000393812.3	-	2	191	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.S16S|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCCCCTAGGGAGGGGAACG	0.607000													8	38					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524767	35524767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35524767G>A	ENST00000415950.3	+	3	572	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	0					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACAGCAGCGGGCTGAGGGG	0.657000													7	10					0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1643077	1643077	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:1643077C>T	ENST00000308132.6	-	5	1332	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Silent_p.E380E|FAM53A_ENST00000461064.1_Silent_p.E380E	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	380						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGAAGACGCCCTCCTCCCCGA	0.697000													10	35					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112046	57112046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57112046G>A	ENST00000454682.1	-	3	3549	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCCTTTTGGGGAGGGAGGA	0.657000			T	BCL6	NHL								30	51					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449125	104449125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:104449125G>A	ENST00000361820.3	-	2	1657	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCACCCAACGAAGTTCAGGG	0.512000													26	6					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296310	238296310	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:238296310C>T	ENST00000295550.4	-	4	1679	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Silent_p.G203G|COL6A3_ENST00000392004.3_Silent_p.G203G|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.G203G|COL6A3_ENST00000346358.4_Silent_p.G409G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	409	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTGGAGGTCCCCAAAGCTAC	0.532000													7	10					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15997098	15997098	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15997098T>A	ENST00000221700.5	-	8	1034	c.939A>T	c.(937-939)ttA>ttT	p.L313F	CYP4F2_ENST00000592328.1_Missense_Mutation_p.L313F|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	313					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTCATCAGATAACTTCTTCC	0.537000													91	136					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428581	56428581	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56428581C>T	ENST00000262032.5	+	12	1591	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.P363P|IKZF4_ENST00000547167.1_Silent_p.P408P|IKZF4_ENST00000431367.2_Silent_p.P306P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	408					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGATGCAGCCCCTCCCTGGTC	0.632000													23	31					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123124	36123124	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:36123124G>A	ENST00000249044.2	+	3	1009	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	337					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAAGAAGCTGGAGCAGGAGCT	0.622000													16	27					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419291	37419291	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37419291C>T	ENST00000374660.1	+	3	426	c.327C>T	c.(325-327)atC>atT	p.I109I	ANKRD30A_ENST00000602533.1_Silent_p.I109I|ANKRD30A_ENST00000361713.1_Silent_p.I109I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGCAGTCATCGAAGTGCACA	0.353000													23	28					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025848	2025848	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2025848C>T	ENST00000568546.1	+	11	1155	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	343					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGTCCGGTTTCTTGGGCCCGA	0.607000													49	62					0	0	1	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22321084	22321084	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22321084G>A	ENST00000390435.1	+	0	242																											GGCATTAAAGGCTTTGAGGCT	0.502000													18	28					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552000													36	69					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43651923	43651923	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:43651923C>T	ENST00000264663.5	+	13	2021	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	NNT_ENST00000512996.2_Silent_p.L469L|NNT_ENST00000344920.4_Silent_p.L600L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	600					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTACCTGCTCCCTGCCGGCA	0.453000													56	105					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152981081	152981081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152981081G>A	ENST00000458587.2	-	4	887	c.458C>T	c.(457-459)cCc>cTc	p.P153L	BCAP31_ENST00000345046.6_Missense_Mutation_p.P86L|BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.P86L	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	86					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCCCCGGGATTGTTCTG	0.537000													57	97					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94938602	94938602	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:94938602G>A	ENST00000377047.4	+	5	1492		c.e5-1			NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TATTTTAACAGATGCAATGCT	0.418000													10	24					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450170	35450170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35450170G>A	ENST00000404801.1	-	4	975	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ZNF792_ENST00000605484.1_Missense_Mutation_p.P130S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCTTTACAGGGGAAGCCTGG	0.552000													73	138					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763683	82763683	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:82763683G>A	ENST00000423517.2	-	3	3520	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	PCLO_ENST00000333891.8_Silent_p.L1061L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1007					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						CAGTTTTGCAGAGAGGACAGG	0.418000													14	19					0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71648571	71648571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71648571C>T	ENST00000380639.5	+	9	948	c.932C>T	c.(931-933)tCg>tTg	p.S311L	PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.S202L|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.S139L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	311										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATGTGTTCTCGGAGGAAGTG	0.333000													13	15					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16218718	16218718	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16218718C>T	ENST00000399408.2	+	26	3868	c.3693C>T	c.(3691-3693)tcC>tcT	p.S1231S	ABCC1_ENST00000349029.5_Silent_p.S1106S|ABCC1_ENST00000345148.5_Silent_p.S1221S|ABCC1_ENST00000346370.5_Silent_p.S1165S|ABCC1_ENST00000399410.3_Silent_p.S1221S|ABCC1_ENST00000351154.5_Silent_p.S1162S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1221	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGGTGATCTCCAGGCACAGCC	0.557000													23	42					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41625593	41625593	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:41625593G>A	ENST00000216237.5	+	16	2096	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	646					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGGTCCAAGAAGCCCCTGC	0.557000													17	27					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62553652	62553652	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:62553652T>G	ENST00000448257.2	+	8	1014	c.813T>G	c.(811-813)gaT>gaG	p.D271E	CDK1_ENST00000395284.3_Missense_Mutation_p.D271E|CDK1_ENST00000316629.4_Missense_Mutation_p.D214E|CDK1_ENST00000373809.2_Missense_Mutation_p.D214E			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	271	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TAATCTATGATCCAGCCAAAC	0.294000													22	31					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68334806	68334806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:68334806G>A	ENST00000297770.4	-	11	1462	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	CPA6_ENST00000297769.4_Missense_Mutation_p.P172L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	416					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGTACAGGTGGGTTTGATGAG	0.433000													55	90					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492517	74492517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74492517G>A	ENST00000354431.4	-	8	2046	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289000													7	22					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123217344	123217344	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123217344C>T	ENST00000371160.1	+	29	3288	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	STAG2_ENST00000371157.3_Missense_Mutation_p.L1000F|STAG2_ENST00000218089.9_Missense_Mutation_p.L1000F|STAG2_ENST00000354548.5_Missense_Mutation_p.L931F|STAG2_ENST00000371145.3_Missense_Mutation_p.L1000F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L1000F			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1000					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTGGCATTTCTTGATATTCT	0.338000													39	58					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234229350	234229350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234229350G>A	ENST00000409110.1	+	5	486	c.256G>A	c.(256-258)Gac>Aac	p.D86N	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	86					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTTCCGCAGGGACCTGTACTT	0.587000													3	6					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59479268	59479268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:59479268C>T	ENST00000240328.3	+	2	900	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	207					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TGTGGCCTTCCACAAGCTGAA	0.617000													20	51					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728346	104728346	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:104728346G>A	ENST00000372582.1	+	6	1495	c.739G>A	c.(739-741)Gag>Aag	p.E247K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E247K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	247	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCCCCATGGAGAATCAGCC	0.408000													40	41					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851257	155851257	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155851257C>T	ENST00000368324.4	+	4	1507	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	SYT11_ENST00000539162.1_Silent_p.P111P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	418						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCGAGAGCCCCCGCAAGCCTG	0.607000													28	57					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474243	55474243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55474243G>A	ENST00000371265.4	+	4	1159	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	302						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CTGCCAGATGGAGCCGGGGAC	0.577000													43	45					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026126	176026126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176026126G>A	ENST00000303991.4	-	2	887	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	237				Missing (in Ref. 4; CAD38868).		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)			CTTTCTCAAAGACCCAGGATC	0.488000													62	17					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36125268	36125268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36125268G>A	ENST00000262633.4	+	8	1233	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	RBM42_ENST00000592202.1_Nonsense_Mutation_p.W322*|RBM42_ENST00000588161.1_Nonsense_Mutation_p.W346*|RBM42_ENST00000589871.1_Nonsense_Mutation_p.W354*|RBM42_ENST00000360475.4_Nonsense_Mutation_p.W347*|RBM42_ENST00000589559.1_Nonsense_Mutation_p.W347*|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	376	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTGGAGTGGGATGCAGGTA	0.617000													15	18					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459380	56459380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56459380G>A	ENST00000291971.3	+	1	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	38	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCCCATGTGAAAATGGGGT	0.527000													21	33					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153019152	153019152	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:153019152C>T	ENST00000367245.5	+	1	123	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	MYCT1_ENST00000529453.1_Missense_Mutation_p.L39F	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	39						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTGTTTTTCTTCTCTTTCT	0.328000													14	7					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21351208	21351208	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:21351208G>C	ENST00000215739.8	+	20	2718	c.2359G>C	c.(2359-2361)Gac>Cac	p.D787H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.D768H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	787					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGGCACTGGACATGAAGCG	0.607000													25	31					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496869	24496869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:24496869C>T	ENST00000284224.8	-	6	963	c.686G>A	c.(685-687)aGa>aAa	p.R229K	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.R229K|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	229					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CATCAGAATTCTTTTCCAATT	0.393000													42	60					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627043	187627043	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:187627043C>T	ENST00000304698.5	+	8	2177	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	658						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGACCCTCCTGGAGCTGT	0.493000													39	79					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47429395	47429395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47429395C>T	ENST00000377045.4	+	14	1717	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	508	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCTCACTGCCTTACAGCCAC	0.592000													8	15					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756814	56756814	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56756814C>T	ENST00000326855.2	+	1	468	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CAGTCTGCATCCGTTTGGTAG	0.448000													47	74					0	0	1	0	0
MTHFSD	64779	broad.mit.edu	37	16	86565692	86565692	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:86565692G>A	ENST00000322911.6	-	8	1124	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	MTHFSD_ENST00000360900.6_Silent_p.V359V|MTHFSD_ENST00000381214.5_Silent_p.V359V|MTHFSD_ENST00000546093.1_Silent_p.V196V|MTHFSD_ENST00000543303.2_Silent_p.V358V	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	359	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GCAAGCAGGAGACGGCCTGCT	0.711000													11	11					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785188	8785188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8785188C>T	ENST00000447110.1	-	16	2340	c.2216G>A	c.(2215-2217)aGt>aAt	p.S739N	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	739	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACTTCGTCCACTGATGGCCCC	0.612000													10	13					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236688	42236688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:42236688C>T	ENST00000541110.1	-	5	1209	c.641G>A	c.(640-642)gGt>gAt	p.G214D	TRERF1_ENST00000372917.4_Missense_Mutation_p.G214D|TRERF1_ENST00000372922.4_Missense_Mutation_p.G214D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G214D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G214D			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	214	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACAGCCCACCAGTGAAACC	0.632000													4	49					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797673	52797673	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52797673C>T	ENST00000257974.2	-	2	509	c.432G>A	c.(430-432)aaG>aaA	p.K144K		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	144	Coil 1A.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCAGCTTGTTCTTCTGCTCCA	0.542000													19	19					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705881	41705881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:41705881G>A	ENST00000379485.1	-	1	1001	c.767C>T	c.(766-768)cCc>cTc	p.P256L	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	256							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCAGCACTGGGACCCCGCTC	0.572000													27	56					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89734500	89734500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89734500C>T	ENST00000343435.5	-	4	766	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G77E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	77						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATCCAAATTCCCTTGGTGTG	0.488000													14	44					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86773015	86773015	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:86773015G>A	ENST00000373119.4	+	1	264	c.119G>A	c.(118-120)gGa>gAa	p.G40E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G40E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	40						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G40V(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGCAGGAAGGATATGAGCAT	0.488000													29	80					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004780	20004780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:20004780C>T	ENST00000440926.1	-	16	1923	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC18A1_ENST00000276373.5_Missense_Mutation_p.E485K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E453K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E453K|SLC18A1_ENST00000437980.1_Intron	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	485					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGCTTCTCTTCCTTTGCCGGG	0.488000													15	25					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008174	46008174	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46008174G>A	ENST00000296137.2	-	8	2857	c.2652C>T	c.(2650-2652)tcC>tcT	p.S884S	FYCO1_ENST00000535325.1_Silent_p.S884S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	884					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGCTTCCTCGGAGCTGCATT	0.657000													13	23					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114292093	114292093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:114292093C>G	ENST00000544902.1	+	10	1262	c.880C>G	c.(880-882)Ctg>Gtg	p.L294V	TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000375370.5_Intron			Q14186	TFDP1_HUMAN	transcription factor Dp-1	358	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TGTGTTGTTTCTGTTTCATGA	0.488000										TSP Lung(29;0.18)			14	23					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56599550	56599550	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:56599550C>T	ENST00000407595.2	+	4	1891	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	463										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGTCCAGAGCCCGGCGGGTCT	0.517000													6	6					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131719260	131719260	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131719260A>T	ENST00000372577.2	+	5	297	c.276A>T	c.(274-276)ttA>ttT	p.L92F	RP11-101E3.5_ENST00000482796.1_Missense_Mutation_p.113_113insF|NUP188_ENST00000550219.1_3'UTR	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	92					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGTGCAGTTACTCCAGTGTT	0.428000													46	24					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748972	152748972	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152748972C>T	ENST00000334371.2	+	1	125	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	42					keratinization			p.S42F(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccTGTCTCTTCCTGCTGCAGC	0.677000													22	52					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933389	39933389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:39933389G>A	ENST00000342274.4	-	4	1572	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Q404*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	404					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCACTGGCTGGGCACCTTCG	0.592000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						21	24					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266048	39266048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:39266048C>T	ENST00000280481.7	+	1	4783	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1523					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCGGACATTCCGTATCTCCAT	0.423000													52	69					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3453854	3453854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3453854C>T	ENST00000589123.1	+	9	1456	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S	NFIC_ENST00000443272.2_Missense_Mutation_p.P455S|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000590282.1_Intron	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	455					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCTGGCGCTCCCCCCTGCCAC	0.677000													3	2					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263101	140263101	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140263101G>A	ENST00000289272.2	+	1	1248	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.E416E|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGCGAGAGCGTATCAG	0.642000													73	135					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101984395	101984395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:101984395C>T	ENST00000394854.3	-	9	1758	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	PPP3CA_ENST00000507176.1_Missense_Mutation_p.E261K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E359K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E292K|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E127K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	359					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATACCTTTTTCCCCAACAAAT	0.383000													13	23					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513433	14513433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14513433C>T	ENST00000242786.5	+	12	1288	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CD97_ENST00000358600.3_Missense_Mutation_p.S310F|CD97_ENST00000357355.3_Missense_Mutation_p.S354F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCATCCTCTCCATCCAGAAC	0.572000													41	69					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549454	56549454	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56549454C>T	ENST00000390649.3	+	10	2679	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	893						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTACGACCTCCCCCAGCCTGA	0.547000													27	28					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139721	145139721	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145139721C>T	ENST00000355091.4	+	8	1228	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GPAA1_ENST00000361036.6_Silent_p.V309V	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	369					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGCTTCGTCTCCATCGGCC	0.602000													48	81					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071631	240071631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240071631G>A	ENST00000255380.4	+	5	1659	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	294					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CAGCAGTTACGAACTTCAACA	0.547000													14	36					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78197055	78197055	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78197055C>T	ENST00000361193.3	+	5	712	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SLC26A11_ENST00000546047.2_Silent_p.F144F|SLC26A11_ENST00000411502.3_Silent_p.F144F|SLC26A11_ENST00000572725.1_Silent_p.F144F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	144						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCCAGGGTTCCTGCTGGACT	0.617000													17	23					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884919	12884919	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12884919G>A	ENST00000535591.1	-	4	1387	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	398										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTTCATCAGCTCAGCCCTA	0.498000													59	127					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115530	168115530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168115530G>A	ENST00000409728.1	+	11	2662	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G603E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G858E|XIRP2_ENST00000409756.2_Missense_Mutation_p.G825E|XIRP2_ENST00000409043.1_Missense_Mutation_p.G825E|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACATTAAAGGAAGCCATTCA	0.378000													8	15					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111138077	111138077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:111138077G>A	ENST00000360467.5	+	34	3407	c.3101G>A	c.(3100-3102)gGa>gAa	p.G1034E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1034	Triple-helical region.				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)			CACATCAAAGGAGTCAAGGGA	0.612000													29	53					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030838	3030838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:3030838C>T	ENST00000328890.2	-	1	37	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGATTTTTCCCCTCCATTTG	0.463000													35	12					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290923	114290923	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:114290923A>G	ENST00000297405.5	-	3	656	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	CSMD3_ENST00000343508.3_Missense_Mutation_p.F98L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F138L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F138L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	138	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAGATGGAATCCTGTTAAC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	39					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26664049	26664049	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26664049G>A	ENST00000527815.1	-	8	1051	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Silent_p.S163S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	163	Beta/gamma crystallin 'Greek key' 7.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAACTCTCAGGGACCCCACAG	0.607000													25	23					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71743683	71743683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:71743683C>T	ENST00000395275.2	-	3	620	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CALN1_ENST00000329008.5_Missense_Mutation_p.E36K|CALN1_ENST00000412588.1_Missense_Mutation_p.E78K|CALN1_ENST00000431984.1_Missense_Mutation_p.E36K|CALN1_ENST00000405452.2_Missense_Mutation_p.E36K|CALN1_ENST00000395276.2_Missense_Mutation_p.E36K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	36	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCGAGCTCCTCCACGGAGATA	0.562000													22	47					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148975489	148975489	+	Splice_Site	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:148975489G>C	ENST00000434415.1	+	5	836		c.e5-1		ZNF783_ENST00000489518.1_Splice_Site	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACATTCTCCAGGCCTCCCTCC	0.602000													11	25					0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41011350	41011350	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:41011350G>A	ENST00000373161.1	+	3	473	c.228G>A	c.(226-228)ctG>ctA	p.L76L	TSPO2_ENST00000373158.2_Intron|TSPO2_ENST00000470917.1_Silent_p.L76L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	76					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTGGCCCCTGGCCCTGCCTC	0.577000													6	70					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628756	8628756	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8628756T>C	ENST00000382073.3	+	5	591	c.405T>C	c.(403-405)tcT>tcC	p.S135S		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	135	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					agtcattttcttattttctgg	0.393000													35	46					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245164	46245164	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:46245164C>T	ENST00000334344.6	+	15	3430	c.3258C>T	c.(3256-3258)ccC>ccT	p.P1086P	ARID2_ENST00000422737.1_Silent_p.P937P|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.P696P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1086	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGATTCCTCCCCCTAATAATG	0.537000			"""N, S, F"""		hepatocellular carcinoma								36	68					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92901171	92901171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92901171G>A	ENST00000326402.4	-	7	837	c.707C>T	c.(706-708)tCa>tTa	p.S236L	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S101L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	236					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAAGGAATGAAAGTACAAA	0.328000													23	36					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101194832	101194832	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:101194832C>T	ENST00000294728.2	+	5	1199	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	VCAM1_ENST00000370119.4_Silent_p.S304S|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	366	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGACCAATTCCACGCTGACCC	0.517000													50	60					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897788	104897788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:104897788G>A	ENST00000507740.1	+	2	621	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	RIMS2_ENST00000436393.2_Missense_Mutation_p.E99K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.E321K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E129K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	352	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATGAATACGAAAGGCAAAG	0.433000										HNSCC(12;0.0054)			10	30					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380268	231380268	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380268G>A	ENST00000264052.5	+	25	2908	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	851					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gagttgtcaaggctgaaaaaa	0.363000													5	3					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31372588	31372588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31372588G>A	ENST00000328111.2	+	4	550	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	DNMT3B_ENST00000443239.3_Missense_Mutation_p.E77K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E89K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000375623.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	77	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCGACGGGGAAGATGGGGA	0.517000													24	40					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438738	37438738	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37438738A>G	ENST00000374660.1	+	11	1537	c.1438A>G	c.(1438-1440)Aaa>Gaa	p.K480E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K480E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K480E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	536						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTTCCAAATAAAGCCTTTGA	0.299000													32	44					0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647334	32647334	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:32647334G>A	ENST00000394620.1	+	2	589	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	41					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGATCAATAGGAAAATTCCTA	0.448000													18	30					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185186	127185186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:127185186G>A	ENST00000371124.3	-	1	1196	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	334						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CATCTATCAGGAGAAGCTGTG	0.532000													39	59					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882500	16882500	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:16882500G>A	ENST00000377833.4	-	62	9926	c.9861C>T	c.(9859-9861)acC>acT	p.T3287T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3287	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTTTGTGGGGTCCAAGTTG	0.448000													4	5					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15737538	15737538	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15737538C>T	ENST00000381341.2	+	6	591	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	DDX1_ENST00000233084.3_Silent_p.L68L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	68	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTATGAAACTCTGAAAGACCA	0.284000													18	23					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22343422	22343422	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:22343422G>A	ENST00000299853.5	+	20	2153	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000418581.2_Silent_p.R626R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	662					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAAATTACCGGGTACGCCGAA	0.403000													34	47					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48458913	48458913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48458913G>A	ENST00000004980.5	-	12	1688	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.Q404*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	404					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGTGTTTCTTGGACAACAGTA	0.348000													16	24					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42481617	42481617	+	Missense_Mutation	SNP	G	G	A	rs75740340	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:42481617G>A	ENST00000398675.3	-	8	1526	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R401C	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	432					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTGGCATAACGATCTCTTACA	0.328000													10	17					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777859	44777859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44777859G>A	ENST00000391958.2	+	5	1173	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R331Q	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTATATGCCCGGAGCTCCAAC	0.527000													13	32					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650684	75650684	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75650684G>A	ENST00000361470.2	+	1	2639	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	787	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGACCTCCTGAATCGTGCTG	0.473000													65	69					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68830448	68830448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68830448G>A	ENST00000294309.3	+	6	744	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.E215K	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	215					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTCGCTGCCGGAAATGGCCAG	0.647000													45	55					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718439	108718439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:108718439G>A	ENST00000218006.2	-	2	1018	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	243					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CACTCACTGCGAATTCTGTCT	0.517000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	67					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91308595	91308595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91308595C>T	ENST00000355112.3	+	9	2262	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	BLM_ENST00000560136.1_Intron|BLM_ENST00000560509.1_Missense_Mutation_p.P715L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	715	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTCATTTCTCCCTTGAGATCA	0.378000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				28	32					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15342945	15342945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:15342945G>A	ENST00000333590.4	-	5	1114	c.1030C>T	c.(1030-1032)Ctt>Ttt	p.L344F	PIGA_ENST00000428964.1_Missense_Mutation_p.L29F|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.L110F	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	344					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAAATAATAAGGTTTTCTGGA	0.388000													43	56					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31531419	31531419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:31531419C>T	ENST00000395934.2	+	1	95	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	ELP4_ENST00000379163.5_Nonsense_Mutation_p.Q30*|ELP4_ENST00000350638.5_Nonsense_Mutation_p.Q30*			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	30					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CACCAGTTTCCAGAGGAGGGG	0.632000													33	59					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33535241	33535241	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33535241C>T	ENST00000254260.3	-	2	134	c.99G>A	c.(97-99)cgG>cgA	p.R33R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	33					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCAATTTACTCCGGCCGGTTT	0.478000													34	44					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150345222	150345222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150345222C>T	ENST00000218316.3	+	1	98	c.29C>T	c.(28-30)cCc>cTc	p.P10L	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	10					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCACCCCCTATGGCTGT	0.547000													46	71					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283503	113283503	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113283503G>A	ENST00000362072.3	-	7	1257	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	DRD2_ENST00000355319.2_Silent_p.L307L|DRD2_ENST00000542968.1_Silent_p.L305L|DRD2_ENST00000346454.3_Silent_p.L276L|DRD2_ENST00000544518.1_Silent_p.L304L|DRD2_ENST00000538967.1_Silent_p.L307L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	305	Interaction with PPP1R9B (By similarity).				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)	GGGAGAGTCAGCTGGTGGTGG	0.657000													25	44					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472911	17472911	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:17472911G>A	ENST00000400588.1	-	2	437	c.330C>T	c.(328-330)ttC>ttT	p.F110F	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	110	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTTCTTGTTGAAGTTCAGAG	0.483000													105	162					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31917213	31917213	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31917213G>A	ENST00000456570.1	+	22	2848	c.2793G>A	c.(2791-2793)ggG>ggA	p.G931G	CFB_ENST00000477310.1_Silent_p.G780G|CFB_ENST00000556679.1_Silent_p.G931G|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Silent_p.G429G			P00751	CFAB_HUMAN	complement factor B	429					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATGTGTTTGGGGTCGGGCCTT	0.478000													23	17					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15690647	15690647	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15690647A>C	ENST00000396368.3	-	27	5338	c.5132T>G	c.(5131-5133)cTc>cGc	p.L1711R	KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1711R|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1546R|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1399R	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1710						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTCCTTGCTGAGCAGTGACTC	0.537000													21	38					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955149	104955149	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:104955149T>G	ENST00000507740.1	+	11	2308	c.2072T>G	c.(2071-2073)tTg>tGg	p.L691W	RIMS2_ENST00000436393.2_Missense_Mutation_p.L677W|RIMS2_ENST00000406091.3_Missense_Mutation_p.L899W|RIMS2_ENST00000262231.10_Missense_Mutation_p.L738W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	961	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACACGGAGGTTGCAAAGTAAG	0.373000										HNSCC(12;0.0054)			8	22					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849557	73849557	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73849557G>A	ENST00000523207.1	+	3	2555	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	656					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTCTATCCAGAGAGAAAGGA	0.577000													27	48					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911500	67911500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67911500G>A	ENST00000358933.5	+	6	969	c.730G>A	c.(730-732)Gag>Aag	p.E244K	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	244					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CATCCCTGAGGAGAGCGAAGA	0.597000													23	51					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013661	99013661	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:99013661C>T	ENST00000393504.1	+	8	2445	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	CNGA3_ENST00000409937.1_Silent_p.P680P|CNGA3_ENST00000436404.2_Silent_p.P658P|CNGA3_ENST00000272602.2_Silent_p.P676P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	676					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGACAAGCCCCTGGCTGATG	0.557000													17	29					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63565035	63565035	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63565035G>T	ENST00000374852.3	-	7	822	c.755C>A	c.(754-756)gCa>gAa	p.A252E	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.A252E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	252	Myotubularin phosphatase.|Substrate binding (By similarity).					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTTCCCAGCTGCTCGGTTGGC	0.448000													42	61					1.15183e-24	1.17684e-24	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154137	22154137	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22154137G>A	ENST00000397126.4	-	4	3847	c.3699C>T	c.(3697-3699)gcC>gcT	p.A1233A	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)				ACGTACTAAAGGCTTTGCCAC	0.403000													15	31					0	0	1	0	0
MXRA7	439921	broad.mit.edu	37	17	74679982	74679982	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74679982G>A	ENST00000375036.2	-	4	585	c.528C>T	c.(526-528)tcC>tcT	p.S176S	MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Silent_p.S21S|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTTGCTACAGGGAAGTGAGGT	0.498000													18	61					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223235	140223235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140223235C>T	ENST00000531613.1	+	1	2329	c.2329C>T	c.(2329-2331)Cct>Tct	p.P777S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777S|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGCCTTCCTCCTGATCT	0.502000													19	32					0	0	1	0	0
SNAPC5	10302	broad.mit.edu	37	15	66787717	66787717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:66787717C>T	ENST00000316634.5	-	2	212	c.131G>A	c.(130-132)aGa>aAa	p.R44K	SNAPC5_ENST00000566658.1_Intron|SNAPC5_ENST00000307979.7_Intron|SNAPC5_ENST00000563480.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000395589.2_Missense_Mutation_p.R44K			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	44					transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						CTCATCCCCTCTTCTAGAACT	0.433000													36	54					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124742917	124742917	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124742917T>G	ENST00000397801.1	+	9	1660	c.1468T>G	c.(1468-1470)Tgg>Ggg	p.W490G	ROBO3_ENST00000538940.1_Missense_Mutation_p.W468G	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	490	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGATGGGCAGTGGCTGCAGGG	0.597000													25	48					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720858	135720858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:135720858C>A	ENST00000264977.3	+	2	1135	c.518C>A	c.(517-519)tCc>tAc	p.S173Y	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	173					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGCCCCATCCTTTGGTTTA	0.413000													26	41					6.32553e-13	6.41384e-13	1	1	0
SPANXN3	139067	broad.mit.edu	37	X	142605181	142605181	+	Silent	SNP	C	C	T	rs148202641		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142605181C>T	ENST00000370503.2	-	1	122	c.39G>A	c.(37-39)acG>acA	p.T13T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	13										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTCTTCGTCTTCTCCC	0.458000													94	114					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29393814	29393814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:29393814G>A	ENST00000558402.1	+	11	1950	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	APBA2_ENST00000411764.1_Missense_Mutation_p.D439N|APBA2_ENST00000558330.1_Missense_Mutation_p.D439N|APBA2_ENST00000561069.1_Missense_Mutation_p.D451N|APBA2_ENST00000558259.1_Missense_Mutation_p.D451N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	451	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AACCATGATGGACCACGCCTT	0.572000													15	9					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405440	2405440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:2405440G>A	ENST00000332578.3	+	6	637	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	213	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCGGGGGAGTTTCCGTG	0.627000													37	22					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71009790	71009790	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:71009790C>T	ENST00000357250.6	-	4	413	c.255G>A	c.(253-255)gtG>gtA	p.V85V	COL9A1_ENST00000370496.3_Silent_p.V85V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	85	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACTTGTAAGCCACCTGCAATG	0.373000													7	36					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47450663	47450663	+	Silent	SNP	C	C	T	rs141629698		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47450663C>T	ENST00000265562.4	+	17	1730	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	PTPN23_ENST00000431726.1_Silent_p.A425A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	551					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)		AGGACAAGGCCGTGCTGCAAA	0.622000													19	41					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866638	140866638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140866638C>T	ENST00000306593.1	+	1	1898	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCTGTTCCTATCCCAGCT	0.532000													11	20					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2547411	2547411	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:2547411C>T	ENST00000319888.6	-	6	1815	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	METTL4_ENST00000574538.1_Silent_p.K339K			Q8N3J2	METL4_HUMAN	methyltransferase like 4	339					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AAAGTTCTTCCTTTATAAAAC	0.408000													29	43					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45900259	45900259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45900259G>A	ENST00000418234.2	-	4	334	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R86W	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	86	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGCCTTCCGGGGGGACCCT	0.687000													6	13					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025393	102025393	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:102025393C>T	ENST00000549145.1	+	6	398	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	MYBPC1_ENST00000547405.1_Silent_p.L61L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Silent_p.L87L|MYBPC1_ENST00000541119.1_Silent_p.L75L|MYBPC1_ENST00000553190.1_Silent_p.L87L|MYBPC1_ENST00000441232.1_Silent_p.L87L|MYBPC1_ENST00000392934.3_Silent_p.L74L|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Silent_p.L112L|MYBPC1_ENST00000360610.2_Silent_p.L87L|MYBPC1_ENST00000550270.1_Silent_p.L87L|MYBPC1_ENST00000547509.1_Silent_p.L73L|MYBPC1_ENST00000361466.2_Silent_p.L112L|MYBPC1_ENST00000536007.1_Silent_p.L87L|MYBPC1_ENST00000452455.2_Silent_p.L87L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	87	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGAAGATCTTCTGAGAAAACC	0.448000													74	17					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304745	10304745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10304745C>T	ENST00000403437.2	-	24	3049	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	985					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGGCCTGCCATCTCTTCTG	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				55	84					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20226796	20226796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:20226796C>T	ENST00000245957.5	+	19	2172	c.2096C>T	c.(2095-2097)tCa>tTa	p.S699L	C20orf26_ENST00000389656.3_Missense_Mutation_p.S55L|C20orf26_ENST00000377293.1_Missense_Mutation_p.S55L|C20orf26_ENST00000377309.2_Missense_Mutation_p.S55L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	699										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCCTGATTTCAACTCATGGA	0.328000													25	36					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199103	118199103	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:118199103C>T	ENST00000425217.1	-	4	666	c.612G>A	c.(610-612)ccG>ccA	p.P204P	KSR2_ENST00000339824.5_Silent_p.P233P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	233	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACAAGCCCGGGTAGGCGT	0.726000													5	10					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62754416	62754416	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62754416C>T	ENST00000400873.3	-	0	1784					NR_026899.1																						AATGAGCTTACATTTCTCCTC	0.398000													14	22					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723521	48723521	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48723521C>T	ENST00000335017.1	+	1	759	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	149	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGACCCCAGCCGCGCCCCGGA	0.711000													5	6					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836302	82836302	+	Missense_Mutation	SNP	G	G	A	rs147255921	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82836302G>A	ENST00000265077.3	+	8	8045	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1507K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2494	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTTCATTCAGAGCAGAACAA	0.473000													26	38					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87588325	87588325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:87588325C>T	ENST00000320005.5	-	18	2184	c.2137G>A	c.(2137-2139)Gga>Aga	p.G713R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	713					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ttttcttttccttcttcctct	0.294000													9	25					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6606978	6606978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:6606978G>A	ENST00000264670.6	-	14	1867	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L	NSUN2_ENST00000506139.1_Missense_Mutation_p.P484L|NSUN2_ENST00000539938.1_Missense_Mutation_p.P283L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	519						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AAATACAAATGGATCTTCTTT	0.313000													31	41					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28876342	28876342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28876342C>T	ENST00000397358.3	+	7	1467	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	HMBOX1_ENST00000444075.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000355231.5_Missense_Mutation_p.P255S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P255S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P255S|HMBOX1_ENST00000519047.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P255S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	255					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ACAAACGCCTCCCCCAGTCTC	0.493000													37	48					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323338	135323338	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:135323338C>T	ENST00000316077.9	-	5	736	c.516G>A	c.(514-516)gcG>gcA	p.A172A	MAP7D3_ENST00000370661.1_Silent_p.A172A|MAP7D3_ENST00000370663.5_Silent_p.A154A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	172						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGAATTCGCCATTGCAG	0.358000													45	37					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137354760	137354760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137354760G>A	ENST00000033079.3	-	3	492	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FAM13B_ENST00000420893.2_Missense_Mutation_p.S14F|FAM13B_ENST00000425075.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	14					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGCAAGAACGGAGTTGCAGTT	0.433000													34	57					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630378	155630378	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155630378G>A	ENST00000368340.5	-	10	1785	c.1677C>T	c.(1675-1677)gcC>gcT	p.A559A	YY1AP1_ENST00000407221.1_Silent_p.A410A|YY1AP1_ENST00000359205.5_Silent_p.A430A|YY1AP1_ENST00000311573.5_Silent_p.A410A|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.A441A|YY1AP1_ENST00000368330.2_Silent_p.A441A|YY1AP1_ENST00000361831.5_Silent_p.A430A|YY1AP1_ENST00000295566.4_Silent_p.A487A|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Silent_p.A441A|YY1AP1_ENST00000404643.1_Silent_p.A421A|YY1AP1_ENST00000535662.1_Silent_p.A287A|YY1AP1_ENST00000368339.5_Silent_p.A579A	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTCGGAGGGGCTTCTGAAT	0.557000													27	66					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56448300	56448300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56448300G>A	ENST00000584437.1	-	2	2302	c.347C>T	c.(346-348)cCc>cTc	p.P116L	RNF43_ENST00000577716.1_Missense_Mutation_p.P116L|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116L|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	116						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGGGCGGGGGGCCCGTCG	0.607000													24	45					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806824	22806824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22806824G>A	ENST00000361524.3	-	4	1206	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ZNF521_ENST00000584787.1_Missense_Mutation_p.S133F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S353F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	353					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGGACACGGAGGTATAGCC	0.572000			T	PAX5	ALL								23	41					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153590892	153590892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153590892G>A	ENST00000422373.1	-	17	2707	c.2459C>T	c.(2458-2460)gCt>gTt	p.A820V	FLNA_ENST00000369850.3_Missense_Mutation_p.A820V|FLNA_ENST00000360319.4_Missense_Mutation_p.A820V|FLNA_ENST00000344736.4_Missense_Mutation_p.A820V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	820					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GTCGATGTCAGCTTCGGCGGG	0.622000													71	111					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59631446	59631446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59631446C>T	ENST00000257264.3	-	2	297	c.193G>A	c.(193-195)Gga>Aga	p.G65R	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	65					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCTGGATTCCAACAAGTTTG	0.383000													48	90					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95813449	95813449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:95813449G>A	ENST00000376887.4	-	19	2563	c.2449C>T	c.(2449-2451)Cca>Tca	p.P817S	ABCC4_ENST00000536256.1_Missense_Mutation_p.P742S|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770S|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	817	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTACCTATTGGATTTCTATCA	0.348000													9	19					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121671613	121671613	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:121671613G>A	ENST00000369075.3	+	6	1321	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G206R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	417					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACGCAAGATGGACAGACAAG	0.433000													53	74					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508061	37508061	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37508061G>A	ENST00000374660.1	+	40	3709	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1085K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1085K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATTTTAAAAGAAAAGAATGC	0.348000													38	85					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824864	124824864	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824864C>T	ENST00000356219.3	-	37	5640	c.5485G>A	c.(5485-5487)Gag>Aag	p.E1829K	NCOR2_ENST00000404621.1_Missense_Mutation_p.E1812K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1812K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1822K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1383K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1813K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1830					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGCGTGCTCCACCGTCGTG	0.682000													18	30					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2686532	2686532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2686532G>A	ENST00000258796.7	+	2	374	c.169G>A	c.(169-171)Gac>Aac	p.D57N	TTYH3_ENST00000407643.1_Missense_Mutation_p.D57N	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	57						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTCGCCCTGGACCTCCTCTT	0.706000													12	12					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150773139	150773139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150773139C>T	ENST00000370357.4	+	3	295	c.50C>T	c.(49-51)tCt>tTt	p.S17F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	17						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAAGCTCTCAAAGGAAA	0.328000													14	8					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50885811	50885811	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50885811C>T	ENST00000380817.2	-	40	5706	c.5523G>A	c.(5521-5523)gtG>gtA	p.V1841V	SBF1_ENST00000348911.6_Silent_p.V1816V|SBF1_ENST00000390679.3_Silent_p.V1815V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1815	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCAGGTGCCACAGCCTCCA	0.642000													29	69					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387770	77387770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:77387770C>T	ENST00000282849.5	-	10	1892	c.1474G>A	c.(1474-1476)Ggg>Agg	p.G492R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	492	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTAGACACCCCGCCTGAGGT	0.418000													52	85					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49485572	49485572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49485572G>A	ENST00000540532.1	-	5	898	c.644C>T	c.(643-645)tCt>tTt	p.S215F	GYS1_ENST00000541188.1_Silent_p.F254F|GYS1_ENST00000263276.6_Silent_p.F270F|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000323798.3_Silent_p.F334F			P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	0					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)		CCTTGTTGGAGAACTCATAGC	0.537000													41	58					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404411	20404411	+	Missense_Mutation	SNP	G	G	A	rs149331048		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20404411G>A	ENST00000285600.4	+	1	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448000													37	52					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369821	2369821	+	Silent	SNP	G	G	A	rs139695699	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2369821G>A	ENST00000301732.5	-	8	1334	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	ABCA3_ENST00000382381.3_Silent_p.L212L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	212					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCACGGCCAGGAAGCCTTCC	0.642000													21	36					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603463	111603463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111603463G>A	ENST00000431670.2	+	2	950	c.539G>A	c.(538-540)tGg>tAg	p.W180*	PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.W207*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.W180*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	180						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGGCCATGTGGAATGGAAGT	0.532000													29	42					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186935	123186935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123186935G>A	ENST00000328880.5	-	1	955	c.896C>T	c.(895-897)cCa>cTa	p.P299L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	299					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GGGAAAGGATGGGCTGGAGAA	0.532000													5	66					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661200	145661200	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145661200G>A	ENST00000409379.3	-	17	2645	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	872					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCGGGCACGGGGCCTGCTCT	0.692000													47	84					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132514262	132514262	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132514262C>T	ENST00000333577.4	+	29	5615	c.5506C>T	c.(5506-5508)Cct>Tct	p.P1836S	EP400_ENST00000389561.2_Missense_Mutation_p.P1800S|EP400_ENST00000330386.6_Missense_Mutation_p.P1719S|EP400_ENST00000389562.2_Missense_Mutation_p.P1799S|EP400_ENST00000332482.4_Missense_Mutation_p.P1763S			Q96L91	EP400_HUMAN	E1A binding protein p400	1836					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTTGTGATTCCTCCGGTGGT	0.627000													26	82					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942754	45942754	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45942754G>A	ENST00000357632.2	+	3	654	c.474G>A	c.(472-474)agG>agA	p.R158R	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.R146R|CCR9_ENST00000355983.2_Silent_p.R146R	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	158					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATACTTGGAGGGAGAAAAGGC	0.468000													25	31					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117106771	117106771	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:117106771C>T	ENST00000262820.3	-	1	930	c.21G>A	c.(19-21)acG>acA	p.T7T	KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000371878.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000545703.1_Intron	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	7					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGGAGAGCTCGTTTTCCATT	0.413000													33	43					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928652	10928652	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:10928652C>T	ENST00000283141.6	+	18	1753	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	486						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccggtccctccgttcggggtc	0.473000													22	8					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51638490	51638490	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:51638490C>T	ENST00000375695.2	+	4	708	c.555C>T	c.(553-555)tcC>tcT	p.S185S	MAGED1_ENST00000326587.7_Silent_p.S129S|MAGED1_ENST00000375722.1_Silent_p.S129S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Silent_p.S129S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	129					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATGATTTTTCCCAGGCAGCAA	0.507000										Multiple Myeloma(10;0.10)			9	11					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883456	110883456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:110883456C>T	ENST00000369784.3	+	1	2329	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R477*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R477*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	477	RRM 3.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAATTTGATCGATTTGGCAC	0.517000			T	MKL1	acute megakaryocytic leukemia								45	43					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819234	45819234	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45819234C>T	ENST00000397928.1	+	14	2563	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.T706T|TRPM2_ENST00000300481.9_Silent_p.T686T|TRPM2_ENST00000300482.5_Silent_p.T706T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	706						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AACTGCTCACCCGCGTGTCCG	0.627000													34	18					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719164	190719164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:190719164C>T	ENST00000441310.2	+	9	1399	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.P213L|PMS1_ENST00000409823.3_Missense_Mutation_p.P350L|PMS1_ENST00000418224.3_Missense_Mutation_p.P213L|PMS1_ENST00000447232.2_Missense_Mutation_p.P389L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	389					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCAGTCATTCCATTCCAAAAT	0.323000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					35	45					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250210	52250210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52250210C>T	ENST00000595042.1	-	3	179	c.38G>A	c.(37-39)gGa>gAa	p.G13E	FPR1_ENST00000304748.4_Missense_Mutation_p.G13E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	13					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGGTGTCCCTCCAGAGATGTT	0.498000													15	12					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240238	126240238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126240238C>T	ENST00000394329.3	+	1	2685	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	891	Cadherin 8.				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						GACAACTCTCCCCATTTCCTT	0.478000													8	25					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072073	134072073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:134072073C>T	ENST00000264360.4	+	1	1604	c.778C>T	c.(778-780)Cca>Tca	p.P260S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	260	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGTGTCCCTACCAGAGAACTC	0.617000													12	63					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125587578	125587578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125587578C>T	ENST00000316519.6	+	7	924	c.718C>T	c.(718-720)Cct>Tct	p.P240S	AACS_ENST00000261686.6_Missense_Mutation_p.P240S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	240					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGTGGTGATTCCTTATGTGTC	0.473000													49	203					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7795971	7795971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:7795971G>A	ENST00000328853.5	-	4	292	c.224C>T	c.(223-225)tCg>tTg	p.S75L	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	75						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCTGCTTCGAGGCTGGAAC	0.697000													10	5					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117395755	117395755	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:117395755G>A	ENST00000321322.6	-	5	883	c.882C>T	c.(880-882)tcC>tcT	p.S294S	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	234	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACACTTCCTGGGAGTGGAAGC	0.697000													6	8					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107208848	107208848	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:107208848C>T	ENST00000392837.4	+	3	658	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.F169F|RIC8B_ENST00000355478.2_Silent_p.F129F			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	169					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GCTTGCTCTTCCTTCTGTCAC	0.463000													48	116					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805826	77805826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:77805826G>A	ENST00000380345.2	-	4	886	c.211C>T	c.(211-213)Cca>Tca	p.P71S	LHFPL2_ENST00000515007.2_Missense_Mutation_p.P71S	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	71						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TGCACCCCTGGGTTCCGGATG	0.726000													12	10					0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	731314	731314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:731314G>A	ENST00000565677.1	+	2	713	c.106G>A	c.(106-108)Gag>Aag	p.E36K	STUB1_ENST00000219548.4_Missense_Mutation_p.E108K|STUB1_ENST00000564370.1_Missense_Mutation_p.E36K|STUB1_ENST00000566181.2_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	108					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				GCTGGAGATGGAGAGCTATGA	0.672000													12	38					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788355	140788355	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140788355C>G	ENST00000520790.1	+	1	586	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTTATCTCTGGAGAAACT	0.403000													7	14					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655718	99655718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99655718C>T	ENST00000370597.3	-	10	1596	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G414E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G414E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	414						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCCCGTCTCCGTCGAAGTC	0.582000													16	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089073	9089073	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9089073G>A	ENST00000397910.4	-	1	2945	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	914	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTAGGTGGGATGAAGAGA	0.517000													10	1					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79951531	79951531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:79951531C>T	ENST00000438737.2	-	3	750	c.310G>A	c.(310-312)Gat>Aat	p.D104N	RBM26_ENST00000438724.1_Missense_Mutation_p.D104N|RBM26_ENST00000267229.7_Missense_Mutation_p.D104N			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	104					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCTTTATATCTTTTTCTTGG	0.343000													14	25					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607202	17607202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17607202G>A	ENST00000375460.3	+	15	1712	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	558					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGAAGCGGGAGCTGGGCCT	0.592000													26	72					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53453558	53453558	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53453558G>A	ENST00000314250.6	+	18	2423	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	TENC1_ENST00000451358.1_Silent_p.R701R|TENC1_ENST00000552570.1_Silent_p.R711R|TENC1_ENST00000314276.3_Silent_p.R721R|TENC1_ENST00000546602.1_Silent_p.R711R|TENC1_ENST00000379902.3_Silent_p.R587R|TENC1_ENST00000549700.1_Silent_p.R711R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	711					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCTGGAGAGGGAGGCTGGAG	0.667000													14	25					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73230731	73230731	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73230731G>A	ENST00000447371.2	+	16	1535		c.e16-1		NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000579324.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site|NUP85_ENST00000245544.4_Splice_Site			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TTTCGCCATAGGAAAGTATCG	0.517000													44	98					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428794	56428794	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56428794C>T	ENST00000262032.5	+	12	1804	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.P434P|IKZF4_ENST00000547167.1_Silent_p.P479P|IKZF4_ENST00000431367.2_Silent_p.P377P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	479					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCCCCCACCCCAGCCACCTC	0.657000													10	16					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189730	59189730	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59189730T>C	ENST00000302040.4	-	1	719	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTCCTACCTGTAGCTGAGCTG	0.483000													12	30					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579507	43579507	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43579507G>A	ENST00000406487.1	-	3	806	c.709_splice	c.e3+1	p.L236_splice		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	236					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GATACTCACGGAGGAGATTCA	0.527000													112	208					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377932	113377932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113377932G>A	ENST00000316407.4	-	7	3007	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S866F	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	866	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACACCCAAAGAATGTGAAGC	0.448000													25	40					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165499	172165499	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:172165499G>A	ENST00000241256.2	-	1	747	c.705C>T	c.(703-705)atC>atT	p.I235I	GHSR_ENST00000427970.1_Silent_p.I235I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	235					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCTTCCTGCCGATGAGACTGT	0.592000													27	27					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2975987	2975987	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2975987G>T	ENST00000520002.1	-	43	6922	c.6367C>A	c.(6367-6369)Cat>Aat	p.H2123N	CSMD1_ENST00000602723.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2123N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2122N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2122N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2123	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGACAGGATGGCCTATTAGA	0.453000													23	38					7.92952e-12	8.02318e-12	1	1	0
FRMPD2	143162	broad.mit.edu	37	10	49376703	49376703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:49376703C>T	ENST00000374201.3	-	27	3774	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1126K|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1133K|FRMPD2_ENST00000474573.1_Missense_Mutation_p.E110K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1158	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCGTGACTTCCTGTGGGGCC	0.567000													58	13					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919596	12919596	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12919596C>T	ENST00000240189.2	+	3	423	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	112										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGAATTTCTGGGCCAGAT	0.557000													39	37					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43774666	43774666	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43774666C>T	ENST00000372476.3	+	8	1131	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	351					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACCGGATCCCCCAGATCCTC	0.602000													7	39					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153194	105153194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105153194C>T	ENST00000428173.2	+	13	1867	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q521*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	521	Gln-rich.			G -> S (in Ref. 1; CAD98108).			ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q521*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGAGGAATTTCAGGGTCAAGA	0.542000										HNSCC(51;0.14)			19	38					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30033388C>T	ENST00000328224.6	-	2	2071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	280						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GCCCTGTCTTCCTCTTCTCTC	0.507000													9	33					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36482359	36482359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36482359C>T	ENST00000342292.4	-	11	7113	c.7093G>A	c.(7093-7095)Gat>Aat	p.D2365N	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2365						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACTCCCAATCCCAAGGATAG	0.488000													21	42					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171395396	171395396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:171395396G>A	ENST00000342215.6	-	15	1743	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	PLD1_ENST00000340989.4_Silent_p.F652F|PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000351298.4_Silent_p.F652F			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.F652F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGAAGACGAAATTGCAGT	0.448000													31	99					0	0	1	0	0
MORN4	118812	broad.mit.edu	37	10	99376134	99376134	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99376134G>A	ENST00000335628.3	-	4	500	c.501C>T	c.(499-501)atC>atT	p.I167I	PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Silent_p.I109I|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	109										large_intestine(1)|lung(1)|stomach(2)	4						CATTGCGGGGGATTCCATGAG	0.502000													16	38					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289703	98289703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:98289703C>T	ENST00000322128.3	-	1	473	c.370G>A	c.(370-372)Gga>Aga	p.G124R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	124					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCCGCTGTTCCCACGAAGACA	0.721000													10	27					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996128	57996128	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57996128C>T	ENST00000316770.2	-	1	262	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGCAGAGTTCCAGGAAAGAC	0.537000													25	53					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72691193	72691193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72691193G>A	ENST00000341689.3	+	2	335	c.281G>A	c.(280-282)gGa>gAa	p.G94E	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	94						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTCTACGCAGGACTCTGGACC	0.537000													39	66					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761640	55761640	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55761640C>T	ENST00000278409.1	-	1	461	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L154L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCATGAAGTTCAGCAACCCTG	0.507000													33	35					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149011	34149011	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149011G>A	ENST00000346193.3	-	1	1436	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	462										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCCCCACAAGGGGATTTATG	0.592000													23	55					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63963214	63963214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:63963214C>T	ENST00000358794.5	+	5	1295	c.742C>T	c.(742-744)Cca>Tca	p.P248S	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.P201S|STIP1_ENST00000538945.1_Missense_Mutation_p.P177S|STIP1_ENST00000305218.4_Missense_Mutation_p.P201S			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	201					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AACACCTCCACCACCACCCCC	0.507000													21	49					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67272172	67272172	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67272172C>T	ENST00000258201.4	-	5	727	c.480G>A	c.(478-480)gaG>gaA	p.E160E	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	160	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCTCAGCCCCTCTGAATGCA	0.592000													21	37					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903172	40903172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40903172G>A	ENST00000324001.7	-	7	1357	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	363					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAAATCGGGGAAAACTAAGG	0.632000													31	56					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109299377	109299377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109299377C>T	ENST00000370008.3	+	4	297	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	83	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCATCACTCCGACATCAAA	0.303000													6	19					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123614	50123614	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:50123614G>A	ENST00000378302.2	-	9	1285	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	RCBTB1_ENST00000258646.3_Missense_Mutation_p.S342L|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S342L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	342					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GAGGCGCCACGAGACGGCGGG	0.592000													16	11					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138825761	138825761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:138825761C>T	ENST00000370557.1	-	26	4005	c.2978G>A	c.(2977-2979)gGa>gAa	p.G993E	ATP11C_ENST00000370543.1_Missense_Mutation_p.G999E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G999E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.G999E|ATP11C_ENST00000361648.2_Missense_Mutation_p.G999E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	999					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACAATGGTTCCAAAAGTCCA	0.254000													7	19					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524117	55524117	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55524117T>A	ENST00000305377.5	+	1	653	c.565T>A	c.(565-567)Ttt>Att	p.F189I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TAGCATGACATTTACTTTATC	0.428000													46	56					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357969	112357969	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:112357969C>T	ENST00000206423.3	-	2	1737	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CCDC80_ENST00000439685.2_Missense_Mutation_p.D262N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	262								p.D262N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGGCCTTGGTCGATGACCTCG	0.572000													45	71					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679102	37679102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:37679102C>T	ENST00000379800.3	-	1	701	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	98	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAGAGGTCTTCGAGGCTGGGT	0.453000													33	53					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388762	4388762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4388762C>T	ENST00000408920.2	-	1	854	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGCCAGACCCATAAAAGAG	0.493000													27	56					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418941	105418941	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105418941C>T	ENST00000333244.5	-	7	2966	c.2847G>A	c.(2845-2847)aaG>aaA	p.K949K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	949						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCCGCCTTGGGGCCTT	0.617000													96	180					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162725086	162725086	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162725086C>T	ENST00000367922.2	+	7	996	c.558C>T	c.(556-558)gtC>gtT	p.V186V	DDR2_ENST00000367921.3_Silent_p.V186V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	186					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACGGCTGTGTCTGGCTAGGTA	0.478000													9	25					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230513310	230513310	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:230513310C>T	ENST00000321327.2	-	1	57	c.58G>A	c.(58-60)Gga>Aga	p.G20R	PGBD5_ENST00000525115.1_Missense_Mutation_p.G20R|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	20						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCTCAGGTCCTGCAGAGTCC	0.547000													6	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577493	179577493	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179577493C>T	ENST00000589042.1	-	94	27483	c.27259G>A	c.(27259-27261)Gga>Aga	p.G9087R	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7843R|TTN_ENST00000591111.1_Missense_Mutation_p.G8770R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATATTCTCCACTTTGTGAT	0.413000													13	43					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13865992	13865992	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13865992C>T	ENST00000265104.4	-	27	4244	c.4140G>A	c.(4138-4140)cgG>cgA	p.R1380R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1380	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGTATTTCCGATAGATAT	0.323000									Kartagener syndrome				20	34					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517859	123517859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123517859G>A	ENST00000422452.2	-	30	6985	c.6922C>T	c.(6922-6924)Cac>Tac	p.H2308Y	TENM1_ENST00000371130.3_Missense_Mutation_p.H2301Y|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCAATAAGGTGACCTTGGAGA	0.433000													62	118					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651434	135651434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:135651434C>T	ENST00000513104.1	-	3	1096	c.814G>A	c.(814-816)Gat>Aat	p.D272N	TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	272					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTACAAAATCCTTGCATTGC	0.493000													6	22					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826201	48826201	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48826201G>A	ENST00000218176.3	-	1	1775	c.478C>T	c.(478-480)Cca>Tca	p.P160S		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	160						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GGCAGGGCTGGGCCGTCCCCG	0.647000													11	14					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231424	7231424	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7231424C>T	ENST00000383467.2	+	1	302	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	96										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGACCCGGATCGTGGTCCTGA	0.577000													18	37					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420854	11420854	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11420854G>A	ENST00000381842.3	-	0	366				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.627000													91	239					0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	536325	536325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536325C>T	ENST00000215574.4	+	3	565	c.347C>T	c.(346-348)cCc>cTc	p.P116L		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	116					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGAACCCCACGCAGAAC	0.642000													7	4					0	0	1	0	0
IFI30	10437	broad.mit.edu	37	19	18288548	18288548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:18288548C>T	ENST00000407280.2	+	6	732	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	222					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GACCCAGCTCCTTACCCTTGT	0.582000													8	10					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461818	66461818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461818C>T	ENST00000404260.3	+	29	7128	c.6820C>T	c.(6820-6822)Ccc>Tcc	p.P2274S	MAST4_ENST00000261569.7_Missense_Mutation_p.P2077S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2271S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGGTGGGCCCTCTGTCCC	0.622000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004090	75004090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75004090G>A	ENST00000373359.2	-	1	989	c.797C>T	c.(796-798)gCc>gTc	p.A266V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	266	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTTCAGGGCTTCCATCTT	0.488000													59	65					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148563319	148563319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148563319C>T	ENST00000491148.1	+	10	1221	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CPB1_ENST00000282957.4_Missense_Mutation_p.S296F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	296					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAACTCTCTTCCATCAAGGCA	0.473000													31	67					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29999289	29999289	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29999289C>T	ENST00000308893.4	+	16	4739	c.3696C>T	c.(3694-3696)ccC>ccT	p.P1232P	TAOK2_ENST00000416441.2_Silent_p.P1059P|TAOK2_ENST00000543033.1_Silent_p.P1119P|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1232					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGCCCTGCCCCCCTGGAGGT	0.652000													7	10					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124156103	124156103	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124156103C>T	ENST00000303372.5	+	2	260	c.132C>T	c.(130-132)tcC>tcT	p.S44S	TCTN2_ENST00000426174.2_Silent_p.S44S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	44					cilium assembly|smoothened signaling pathway	integral to membrane		p.S44S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCAGCGCGTCCCTGGTCGGAG	0.622000													23	57					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48617032	48617032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:48617032G>A	ENST00000328333.8	-	58	5331	c.5224C>T	c.(5224-5226)Cct>Tct	p.P1742S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1742S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1742	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTCCCCAGGGGCTCCAGGG	0.622000													23	37					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453000													10	20					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057950	17057950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17057950G>A	ENST00000443236.1	-	21	2768	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	866						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCTCCCCGGGGGCCACACAC	0.597000													64	111					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577555	92577555	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92577555G>A	ENST00000298047.6	+	18	11039	c.11022G>A	c.(11020-11022)cgG>cgA	p.R3674R	FAT3_ENST00000533797.1_Silent_p.R9R|FAT3_ENST00000525166.1_Silent_p.R3524R|FAT3_ENST00000409404.2_Silent_p.R3674R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3674					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCACCCTGCGGAATGCAGTCC	0.587000										TCGA Ovarian(4;0.039)			21	24					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212283	8212283	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8212283C>T	ENST00000307637.4	-	2	702	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	167					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTATGGTTGTCTGTAGTGAAG	0.433000													41	75					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282738	73282738	+	Silent	SNP	G	G	A	rs138021838	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73282738G>A	ENST00000402418.3	-	1	1017	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SLC25A19_ENST00000580994.1_Silent_p.F36F|SLC25A19_ENST00000320362.3_Silent_p.F36F|SLC25A19_ENST00000416858.2_Silent_p.F36F|SLC25A19_ENST00000375261.4_Silent_p.F36F|SLC25A19_ENST00000442286.2_Silent_p.F36F			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	36						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGATGACGTCGAAGGGACTGA	0.498000													20	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433077	49433077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49433077G>A	ENST00000301067.7	-	33	8293	c.8294C>T	c.(8293-8295)tCc>tTc	p.S2765F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCTAGGGAAGGACCCTGGCCC	0.617000													24	41					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764643	110764643	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:110764643A>T	ENST00000451085.1	+	4	2861	c.1815A>T	c.(1813-1815)aaA>aaT	p.K605N	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.K605N|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.K605N|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	605	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAGAAAAAAATGTGTAAATG	0.363000													19	45					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141747122	141747122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141747122C>T	ENST00000389484.3	-	17	3720	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4.				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)		TGATTGGATTCATCTTCATTG	0.388000										TSP Lung(27;0.18)			33	28					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23217678	23217678	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:23217678C>T	ENST00000389131.3	-	3	825	c.456G>A	c.(454-456)gaG>gaA	p.E152E	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	152	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACCGACATCCTCCGTGTGCT	0.522000													26	34					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457160	20457160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20457160T>A	ENST00000426804.1	-	1	4626	c.4142A>T	c.(4141-4143)gAg>gTg	p.E1381V		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTCCTGCTCCTCCTTCAAAAC	0.592000													9	16					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152772638	152772638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152772638C>T	ENST00000331595.4	+	7	1090	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.L241F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	302						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAGCTCCTCCAGGTGAG	0.662000													19	12					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47060900	47060900	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47060900C>T	ENST00000335972.6	+	8	885	c.702C>T	c.(700-702)tgC>tgT	p.C234C	UBA1_ENST00000377351.4_Silent_p.C234C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	234	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTTACCTGCCTGGATGAGG	0.547000													12	43					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916924	178916924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:178916924C>T	ENST00000263967.3	+	2	468	c.311C>T	c.(310-312)cCa>cTa	p.P104L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	104	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAATTGAACCAGTAGGCAAC	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	44					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000927	11000927	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11000927G>A	ENST00000324288.8	+	11	1711	c.1578G>A	c.(1576-1578)cgG>cgA	p.R526R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	526	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTCCCTCCGGGGGCTGCTGG	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								22	34					0	0	1	0	0
GPSM3	63940	broad.mit.edu	37	6	32159644	32159644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32159644C>T	ENST00000375040.3	-	3	579	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	63	GoLoco 1.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGAAGGAGTTCAGTCTGCAGG	0.672000													19	12					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544999	31544999	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31544999G>A	ENST00000449264.2	+	4	562	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	129					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TGCCATCAGAGGGCCTGTACC	0.632000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				4	64					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785504	37785504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:37785504G>A	ENST00000314103.4	+	12	1535	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	462					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCCTTGCCGGGGCCTTCGGA	0.627000													23	5					0	0	1	0	0
TRMU	55687	broad.mit.edu	37	22	46742369	46742369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:46742369G>A	ENST00000290846.4	+	4	746	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TRMU_ENST00000424260.2_Missense_Mutation_p.E101K|TRMU_ENST00000381019.3_Missense_Mutation_p.E136K	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	136						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCTGGAAGATGAAGAAGTCTT	0.458000													31	52					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412345	68412345	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:68412345C>T	ENST00000396591.3	+	10	1807	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	399					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTCAATCGATCCCTAGGTTTA	0.373000													20	41					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028493	37028493	+	Silent	SNP	C	C	T	rs151036171		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37028493C>T	ENST00000358047.3	+	1	2062	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	670										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCGGAGCCCCCCGAGACTG	0.647000													43	38					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40777366	40777366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40777366G>A	ENST00000372748.3	-	9	535	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	147	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCCCGATGGTCCATCTGGT	0.612000													40	44					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42466779	42466779	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:42466779G>A	ENST00000381668.5	-	27	2778	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	ATP8A1_ENST00000264449.10_Silent_p.A834A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	849					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATAGTTCCAGGCACCATGAA	0.328000													15	44					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055174	9055174	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:9055174C>T	ENST00000383836.3	-	17	2392	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	SRGAP3_ENST00000360413.3_Silent_p.L631L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	655	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCAGATGGCCAGGTTGTAGG	0.542000			T	RAF1	pilocytic astrocytoma								20	37					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89628855	89628855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:89628855G>A	ENST00000345097.4	-	7	1492	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	FOXN3_ENST00000557258.1_Missense_Mutation_p.S437F|FOXN3_ENST00000261302.5_Missense_Mutation_p.S459F|FOXN3_ENST00000555353.1_Missense_Mutation_p.S437F	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	459					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGCAGGAGGGACCCTGCCGC	0.522000													34	50					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12678181	12678181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:12678181G>A	ENST00000262127.2	-	10	1775	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	CEP76_ENST00000423709.2_Missense_Mutation_p.S442F|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	517					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCAATTGTGGATGCACACAG	0.443000													43	65					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430317	153430317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:153430317G>A	ENST00000368723.3	-	3	381	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	S100A7_ENST00000368722.1_Missense_Mutation_p.H91Y	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	91					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTCCATGGCTCTGCTTG	0.517000													34	43					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188892	11188892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:11188892C>T	ENST00000382435.4	+	1	496	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	93	DUF6 1.					integral to membrane											GCGTGGCGACCCCCTTCTGGG	0.592000													82	189					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283285	152283285	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152283285G>A	ENST00000368799.1	-	3	4112	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1359	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTGGCGGGATCCATGTC	0.542000									Ichthyosis				93	324					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118281447	118281447	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118281447C>T	ENST00000402510.2	-	2	398	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	133										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCCTGAATCCTGTTCTTGGA	0.502000													20	26					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35323144	35323144	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:35323144C>T	ENST00000278379.3	-	6	1061	c.779G>A	c.(778-780)gGa>gAa	p.G260E	SLC1A2_ENST00000606205.1_Missense_Mutation_p.G260E|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G251E|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G251E	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	260					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGCCTGATCTCCCATCTTCCC	0.378000													24	37					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001681	145001681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145001681G>A	ENST00000322810.4	-	27	4233	c.4064C>T	c.(4063-4065)cCc>cTc	p.P1355L	PLEC_ENST00000527096.1_Missense_Mutation_p.P1241L|PLEC_ENST00000345136.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354589.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354958.2_Missense_Mutation_p.P1196L|PLEC_ENST00000356346.3_Missense_Mutation_p.P1204L|PLEC_ENST00000357649.2_Missense_Mutation_p.P1222L|PLEC_ENST00000436759.2_Missense_Mutation_p.P1245L|PLEC_ENST00000398774.2_Missense_Mutation_p.P1186L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1355	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGCCCAAGGGGTCTGCACT	0.716000													11	14					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44286942	44286942	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44286942C>T	ENST00000216177.4	-	2	558	c.426_splice	c.e2+1	p.Q142_splice	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000597664.1_Splice_Site_p.Q142_splice|PNPLA5_ENST00000593866.1_Intron	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	142	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCCCACACCTGGATGAGCT	0.652000													8	13					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89657044	89657044	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89657044C>T	ENST00000355754.6	-	6	913	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	272						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGCCTTTCCAGATTTTCTT	0.418000													18	53					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113924290	113924290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:113924290G>A	ENST00000348367.4	-	13	1497	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GPAM_ENST00000423155.1_Missense_Mutation_p.P434S|GPAM_ENST00000369425.1_Missense_Mutation_p.P434S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	434					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TACCTTGAAGGAAGTATAGCT	0.358000													17	21					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443774	19443774	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:19443774C>T	ENST00000338883.4	-	9	1313	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MAP3K15_ENST00000469203.2_Silent_p.G270G|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	438							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTCCAAGCTCCCTTTTCTTC	0.443000													14	9					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71329518	71329518	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:71329518G>A	ENST00000260382.5	+	15	1964	c.1703_splice	c.e15-1	p.R568_splice	LRRC49_ENST00000560158.2_Splice_Site_p.R256_splice|LRRC49_ENST00000560691.1_Splice_Site_p.R274_splice|LRRC49_ENST00000443425.2_Splice_Site_p.R524_splice|LRRC49_ENST00000560369.1_Splice_Site_p.R573_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Splice_Site_p.R558_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	568						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTTCTACAGGAAAAAGCAAT	0.308000													32	63					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6776966	6776966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6776966G>A	ENST00000396795.1	-	9	1962	c.1465C>T	c.(1465-1467)Ccg>Tcg	p.P489S	ZNF384_ENST00000396801.3_Missense_Mutation_p.P550S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P550S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P434S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	550	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GTCTTATACGGGGTCAGGTCA	0.622000			T	"""EWSR1, TAF15 """	ALL								83	125					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129261	83129261	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83129261G>A	ENST00000329312.4	+	4	1582	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	515					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGCAAGAAAGGACACAGAGT	0.353000													19	31					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14534953C>T	ENST00000358970.5	-	4	863	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000													18	60					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802342	27802342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27802342G>A	ENST00000408964.2	+	1	2954	c.2903G>A	c.(2902-2904)gGt>gAt	p.G968D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	968										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTTATCATGGTCATAAGAAA	0.418000													18	50					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152830499	152830499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152830499G>A	ENST00000370186.1	+	19	3564	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	ATP2B3_ENST00000349466.2_Missense_Mutation_p.E1094K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1080K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1094K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1094K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1080K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1094					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.E1094Q(3)|p.E1080Q(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACCATGCCGAGCGGGAGCT	0.672000													8	10					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36338958	36338958	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36338958G>A	ENST00000378910.5	-	11	1424	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	NPHS1_ENST00000353632.6_Silent_p.S475S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	475	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCACATGAGGGAGGGCTCTG	0.622000													29	39					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801414	133801414	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:133801414G>A	ENST00000321016.8	-	10	1532	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	IGSF9B_ENST00000533871.2_Silent_p.A434A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	434	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCCCGGCCGGCCTCCTGCC	0.657000													34	41					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372443	1372443	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1372443C>T	ENST00000476993.1	+	2	288	c.210C>T	c.(208-210)gcC>gcT	p.A70A	VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	70	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCACCGGGGCCCTGCGTGCCA	0.672000													12	22					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9022664	9022664	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:9022664G>A	ENST00000305997.3	-	6	681	c.483C>T	c.(481-483)tcC>tcT	p.S161S	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	161					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCTCTGTGAGGAAGTCAGTT	0.483000													20	27					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408308	47408308	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47408308C>T	ENST00000398879.1	-	17	2301	c.1935G>A	c.(1933-1935)agG>agA	p.R645R	TNS3_ENST00000355730.3_Silent_p.R405R|TNS3_ENST00000311160.9_Silent_p.R645R			Q68CZ2	TENS3_HUMAN	tensin 3	645						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGCCTACACCCCTCTGGACAG	0.642000													82	77					0	0	1	0	0
CBX1	10951	broad.mit.edu	37	17	46148855	46148855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46148855C>T	ENST00000393408.3	-	5	980	c.500G>A	c.(499-501)aGg>aAg	p.R167K	CBX1_ENST00000225603.4_Missense_Mutation_p.R167K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	167	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CCACGTCAGCCTTTCCTCATA	0.498000													28	44					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31910823	31910823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31910823C>T	ENST00000456570.1	+	7	903	c.848C>T	c.(847-849)gCc>gTc	p.A283V	CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.A436V|CFB_ENST00000556679.1_Missense_Mutation_p.A283V|C2_ENST00000469372.1_Missense_Mutation_p.A190V|C2_ENST00000442278.2_Missense_Mutation_p.A304V|C2_ENST00000452323.2_Missense_Mutation_p.A222V			P00751	CFAB_HUMAN	complement factor B	452	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAGAGGCATGCCTTCATTCTG	0.552000													89	73					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964740	3964740	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3964740G>A	ENST00000545797.2	-	3	555	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK3_ENST00000301264.3_Silent_p.F104F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	104	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCGCCAGGAAGTCAAAGA	0.597000													38	19					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101505	123101505	+	Missense_Mutation	SNP	C	C	T	rs60409072	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123101505C>T	ENST00000466202.1	-	11	2489	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	IQUB_ENST00000324698.6_Missense_Mutation_p.R638Q			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	638										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAATGATTCTCGTTTTTGAGC	0.378000													36	45					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368630	86368630	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86368630T>A	ENST00000400286.2	-	2	2612	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	672						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCAGAGGGTCTTTCAGTAGTG	0.438000													73	127					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353008	23353008	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:23353008C>T	ENST00000379361.4	+	1	876	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	6					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCGGCAGGTTCTGCACAGGGG	0.721000													4	7					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187585	62187585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62187585C>T	ENST00000370098.3	+	2	661	c.569C>T	c.(568-570)tCt>tTt	p.S190F	C20orf195_ENST00000370097.1_Missense_Mutation_p.S190F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	190										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCTGGTGTCTGATGTCAGT	0.642000													52	94					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41584468	41584468	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:41584468C>T	ENST00000262415.3	+	13	1898	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	DHX8_ENST00000540306.1_Missense_Mutation_p.S609F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	609	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTACACTTCCAGGGGCAAG	0.532000													51	64					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808226	1808226	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1808226C>T	ENST00000518288.1	+	5	592	c.429C>T	c.(427-429)ctC>ctT	p.L143L	ARHGEF10_ENST00000398564.1_Silent_p.L143L|ARHGEF10_ENST00000349830.3_Silent_p.L119L|ARHGEF10_ENST00000262112.6_Silent_p.L143L|ARHGEF10_ENST00000520359.1_Silent_p.L119L|ARHGEF10_ENST00000398560.1_Silent_p.L143L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	143					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGTGGGTCTCCATGTGCCCT	0.627000													28	36					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654656	99654656	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:99654656C>T	ENST00000292450.4	+	2	191	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ZSCAN21_ENST00000456748.2_Silent_p.A9A|ZSCAN21_ENST00000543588.1_Silent_p.A9A|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TAGGCATGGCCCCAGTTCTGG	0.527000													74	172					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99681424	99681424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:99681424G>A	ENST00000393483.3	-	16	2226	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	TSGA10_ENST00000410001.1_Missense_Mutation_p.S461F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S461F|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.S461F	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	461					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTGTTGAGGGAATCTACTTT	0.358000													24	23					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110454415	110454415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:110454415G>A	ENST00000260283.4	-	14	1746	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L462F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.L31F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L465F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L462F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L452F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L452F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	488	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACCCCAAAAAGATACCTTAGG	0.388000													14	18					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131128280	131128280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:131128280G>A	ENST00000352689.6	+	11	1254	c.1214G>A	c.(1213-1215)gGt>gAt	p.G405D	MKLN1_ENST00000421797.2_Missense_Mutation_p.G313D	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	405					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TACACTTTTGGTGGTAGAATT	0.388000													32	72					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828085	160828085	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:160828085C>T	ENST00000392145.1	+	3	573	c.546C>T	c.(544-546)atC>atT	p.I182I	SLC22A3_ENST00000275300.2_Silent_p.I182I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	182						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATGGCAGGATCGTCATTTACT	0.418000													28	19					0	0	1	0	0
SLC25A43	203427	broad.mit.edu	37	X	118585997	118585997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118585997G>A	ENST00000217909.7	+	4	1060	c.716G>A	c.(715-717)aGt>aAt	p.S239N	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Silent_p.Q181Q	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	239					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTCCCACACAGTGGAGGAGTA	0.532000													49	96					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67067492	67067492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67067492C>T	ENST00000447274.2	+	10	1885	c.710C>T	c.(709-711)aCc>aTc	p.T237I	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.T237I|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.T237I|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.T324I			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	237										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCAGCCCCACCAACCCCACA	0.667000													20	30					0	0	1	0	0
RAB1A	5861	broad.mit.edu	37	2	65315800	65315800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:65315800G>A	ENST00000409784.3	-	6	635	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						TCCAAAAACGGAATTCCAAGG	0.393000													6	6					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30602763	30602763	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:30602763C>T	ENST00000300415.8	+	2	100	c.87C>T	c.(85-87)gcC>gcT	p.A29A	CCM2L_ENST00000262659.8_Silent_p.A29A					cerebral cavernous malformation 2-like																		GCCGGGCAGCCTGTAGGAGCA	0.622000													63	96					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261020	151261020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151261020C>T	ENST00000368879.2	+	3	2230	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAACCTGCCCCATGATGCTC	0.567000													8	50					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131117375	131117375	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131117375C>T	ENST00000300456.3	+	10	1485	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	456					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGAAAGACCCCCTGCGCCGCT	0.627000													18	5					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140391670	140391670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140391670C>T	ENST00000406427.1	-	18	2318	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636E|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242E	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	636					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGTACTCCCCGGCCAGGCG	0.667000													8	7					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120763812	120763812	+	Missense_Mutation	SNP	C	C	T	rs143788130		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120763812C>T	ENST00000308366.4	-	2	81	c.46G>A	c.(46-48)Gac>Aac	p.D16N	PLA2G1B_ENST00000549767.1_5'UTR|PLA2G1B_ENST00000423423.3_Missense_Mutation_p.D16N	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	16			D -> A (in dbSNP:rs5632).		actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGCCGCTGTCGGCGGCGGCC	0.617000											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	173					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897606	175897606	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:175897606C>T	ENST00000359240.3	+	5	1600	c.930C>T	c.(928-930)caC>caT	p.H310H	ADAM29_ENST00000404450.4_Silent_p.H310H|ADAM29_ENST00000514159.1_Silent_p.H310H|ADAM29_ENST00000445694.1_Silent_p.H310H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	310	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTACACCACACCGTAGTTGTG	0.423000													34	85					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999861	112999861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112999861C>T	ENST00000271277.6	+	6	1972	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	583						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCACCCATCCCACCCAAGAA	0.567000													43	32					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800937	67800937	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67800937C>T	ENST00000544246.1	-	2	2327	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	PCDH9_ENST00000377865.2_Missense_Mutation_p.D546N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D546N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D546N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D546N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	546	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCCCATTGTCCCTGGCAGTT	0.433000													38	64					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868816	14868816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:14868816C>T	ENST00000380881.4	-	3	975	c.160G>A	c.(160-162)Gag>Aag	p.E54K	FREM1_ENST00000422223.2_Missense_Mutation_p.E54K|FREM1_ENST00000380880.3_Missense_Mutation_p.E54K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	54					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATCTTTCTCTTTAGGGATG	0.522000													11	2					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981041	75981041	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75981041G>A	ENST00000308508.5	-	3	2457	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	789	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGTGGCTCCAGCCGCAGCATC	0.642000													26	34					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14963956	14963956	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14963956C>T	ENST00000285046.5	+	15	3818	c.3708C>T	c.(3706-3708)ccC>ccT	p.P1236P	FGD5_ENST00000543601.1_Silent_p.P995P|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1236					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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGAGAGGCCCCCCACCCTGG	0.597000													2	0					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53681818	53681818	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53681818G>A	ENST00000257934.4	+	19	4330	c.4239G>A	c.(4237-4239)gaG>gaA	p.E1413E	ESPL1_ENST00000552462.1_Silent_p.E1413E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1413					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCTGGCAGAGGAGCCTAAGA	0.607000											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	32					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62467454	62467454	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:62467454G>A	ENST00000383710.4	-	22	3466	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1039	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATTTGTGGGATGCCTAGAG	0.418000													45	73					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371520	240371520	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371520C>T	ENST00000319653.9	+	5	3638	c.3408C>T	c.(3406-3408)ccC>ccT	p.P1136P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1136	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTTCCCGGAGCGGGCA	0.716000													4	2					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55698611	55698611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:55698611C>T	ENST00000373965.2	-	26	3752	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K	PCDH15_ENST00000437009.1_Missense_Mutation_p.E1042K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1076K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1118K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1113K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E724K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1091K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1113K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1120K|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1113	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGACCACTTCCAGGGAATCA	0.378000										HNSCC(58;0.16)			39	50					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16955870	16955870	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:16955870G>A	ENST00000377833.4	-	48	7538	c.7473C>T	c.(7471-7473)acC>acT	p.T2491T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2491	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAACATTAGGGTGATCCGCC	0.512000													47	80					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37853873	37853873	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37853873T>A	ENST00000591471.1	+	9	1998	c.357T>A	c.(355-357)cgT>cgA	p.R119R	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.R119R|HKR1_ENST00000541583.2_Silent_p.R331R|HKR1_ENST00000392153.3_Silent_p.R373R|HKR1_ENST00000589392.1_Silent_p.R374R|HKR1_ENST00000324411.4_Silent_p.R392R			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	392					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGCGTGGCTTTCGCC	0.527000													40	65					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636947	248636947	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248636947C>T	ENST00000359594.2	+	1	321	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P99L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCATTTCCCCGTCAGGCTGT	0.547000													30	13					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70817011	70817011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:70817011C>T	ENST00000261776.5	-	7	996	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	246					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTCTTAATTTCTTTTAAGAAT	0.512000													42	73					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155172169	155172169	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155172169G>A	ENST00000368378.3	-	9	1001	c.981C>T	c.(979-981)ttC>ttT	p.F327F	THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Silent_p.F207F|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Silent_p.F177F	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	327	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGAGCCCGGGAAACAGGGGT	0.607000													17	54					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386506	56386506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56386506C>T	ENST00000355701.3	-	22	4997	c.4127G>A	c.(4126-4128)aGa>aAa	p.R1376K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1376						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCTTCGGGGCTG	0.632000													67	68					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201602	248201602	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248201602C>T	ENST00000366479.2	+	1	129	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACTGATTTCATCTTATTGG	0.358000													52	70					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530926	80530926	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80530926C>T	ENST00000295057.3	-	2	675	c.19G>A	c.(19-21)Ggt>Agt	p.G7S	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G7S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	7						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGACAGAGACCGAGCAGCAGG	0.567000										HNSCC(69;0.2)			22	34					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487059	36487059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36487059G>A	ENST00000342292.4	-	11	2413	c.2393C>T	c.(2392-2394)gCc>gTc	p.A798V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	798						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTTCGAGAGGCCTTCTTGGC	0.647000													4	7					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745111	140745111	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140745111T>G	ENST00000518069.1	+	1	1214	c.1214T>G	c.(1213-1215)tTa>tGa	p.L405*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_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)			TATCACCTATTAACAACTAGG	0.413000													29	57					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887427	131887427	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:131887427C>T	ENST00000359827.3	-	12	3526	c.2564G>A	c.(2563-2565)tGc>tAc	p.C855Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.C855Y			Q9HCM2	PLXA4_HUMAN	plexin A4	855	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGGTTTGTGCACTTGCTTTT	0.657000													30	42					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785838	53785838	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53785838C>T	ENST00000288139.3	+	29	3757	c.3639C>T	c.(3637-3639)ccC>ccT	p.P1213P	CACNA1D_ENST00000350061.5_Silent_p.P1193P|CACNA1D_ENST00000540742.1_Silent_p.P100P|CACNA1D_ENST00000422281.2_Silent_p.P1193P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1193					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)	CCAAAAACCCCTACCAGTACA	0.498000													57	113					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67555493	67555493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:67555493C>T	ENST00000335894.4	+	3	274	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	IQCH_ENST00000512104.1_Nonsense_Mutation_p.Q70*|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	70										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTGTAAACCAGAATGTATT	0.318000													18	23					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306172	27306172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27306172G>A	ENST00000380320.4	+	4	2232	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCATGGGGATGAGGGC	0.657000													24	26					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414031	1414031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1414031G>A	ENST00000446702.2	+	13	2168	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	CNTN6_ENST00000539053.1_Missense_Mutation_p.G442D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G514D			Q9UQ52	CNTN6_HUMAN	contactin 6	514	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACAGTTGGCGAGAGTATA	0.388000													32	52					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73785530	73785530	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73785530G>A	ENST00000334126.7	-	24	4945	c.4719C>T	c.(4717-4719)tcC>tcT	p.S1573S	C2CD3_ENST00000313663.7_Silent_p.S1573S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1573						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAGTCCATGGAGTCCAGCT	0.542000													15	27					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011438	21011438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21011438G>A	ENST00000381545.3	+	5	511	c.292G>A	c.(292-294)Gga>Aga	p.G98R	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G98R|LST3_ENST00000540229.1_Missense_Mutation_p.G98R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G98R|LST3_ENST00000381541.3_Missense_Mutation_p.G98R|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G98R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	98					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GAAGTTAATTGGAATTGGTTG	0.318000													30	38					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13067878	13067878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:13067878G>A	ENST00000506447.1	+	22	4617	c.4537G>A	c.(4537-4539)Gga>Aga	p.G1513R	CEP192_ENST00000325971.8_Missense_Mutation_p.G917R|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1108										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGACTTATGGAGGCTGGAA	0.348000													39	42					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	722105	722105	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:722105C>T	ENST00000315082.4	+	14	1233	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	373					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				ACCTGGACGTCCGGAGCTGCC	0.682000													52	88					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371227	129371227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:129371227C>T	ENST00000421865.2	+	2	326	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	93	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCAGCAATCCAAACCGTAT	0.438000													22	17					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96640976	96640976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:96640976G>A	ENST00000228741.3	+	3	792	c.466G>A	c.(466-468)Gac>Aac	p.D156N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	156					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAACCCACCAGACGCCTTCAA	0.572000													25	7					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120602165	120602165	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120602165A>T	ENST00000300648.6	-	18	1835	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	608					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGTCTTCAGCTCCTCCAA	0.592000													110	103					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110780229	110780229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110780229C>T	ENST00000395494.2	+	14	2776	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.S765L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S765L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	765					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	p.S765L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TACCTCATCTCGTCCAACGTC	0.522000													41	27					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154553968	154553968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154553968G>A	ENST00000409663.3	+	32	4355	c.4303G>A	c.(4303-4305)Gag>Aag	p.E1435K	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1352K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1436K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1435						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGATTCAGGAGTCGGCCCC	0.517000													23	38					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223179118	223179118	+	Missense_Mutation	SNP	C	C	T	rs35640001		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:223179118C>T	ENST00000284476.6	+	8	4543	c.4379C>T	c.(4378-4380)cCa>cTa	p.P1460L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1460					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAGAATGAACCAAAAGTCCTA	0.438000													32	16					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000435	14000435	+	Silent	SNP	G	G	A	rs149789464		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000435G>A	ENST00000454313.1	-	6	1292	c.1234C>T	c.(1234-1236)Cta>Tta	p.L412L	C19orf57_ENST00000586783.1_Silent_p.L412L|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.L412L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	412					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGCCCACTAGGACATCGCCG	0.652000													19	39					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186253747	186253747	+	Splice_Site	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:186253747A>C	ENST00000504273.1	+	10	1551		c.e10-1		SNX25_ENST00000264694.8_Splice_Site|SNX25_ENST00000512853.1_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTCTCCCCCTAGGGCCCAAGA	0.418000													11	31					0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49842699	49842699	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49842699C>T	ENST00000535669.2	+	7	911	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Intron|CD37_ENST00000426897.2_Intron|CD37_ENST00000598095.1_Missense_Mutation_p.S198L			P11049	CD37_HUMAN	CD37 molecule	0						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CACCCGCGATCGGCCCTAAAT	0.652000													49	74					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71932657	71932657	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:71932657C>T	ENST00000373545.3	-	2	639	c.201G>A	c.(199-201)cgG>cgA	p.R67R	PHKA1_ENST00000339490.3_Silent_p.R67R|PHKA1_ENST00000541944.1_Silent_p.R67R|PHKA1_ENST00000373539.3_Silent_p.R67R|PHKA1_ENST00000373542.4_Silent_p.R67R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	67					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TATCCTCATCCCGGTCTGCAT	0.493000													18	24					0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133779348	133779348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:133779348C>T	ENST00000536435.2	+	6	1406	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.P359L|ZNF268_ENST00000537565.1_Missense_Mutation_p.P198L	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGTGAGAATCCCTATGAGTGC	0.403000													10	9					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964286	109964286	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:109964286C>T	ENST00000309415.6	+	2	730	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	244	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTTCCTCCCAGCCAGCTA	0.567000													7	19					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39023387	39023387	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39023387A>T	ENST00000251643.4	-	1	75	c.52T>A	c.(52-54)Tcc>Acc	p.S18T		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	18	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCCGCCGGGACAGTCCGGGG	0.597000													15	38					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195487	124195487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:124195487G>A	ENST00000518448.1	+	2	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K|FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K|FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612000													31	65					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79991559	79991559	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79991559C>T	ENST00000373275.4	-	9	1058	c.842G>A	c.(841-843)aGa>aAa	p.R281K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	281										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTGAGGTATCTGTTTGTGCC	0.308000													16	25					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473415	19473415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:19473415G>A	ENST00000507958.1	-	15	3283	c.2293C>T	c.(2293-2295)Cac>Tac	p.H765Y	CDH18_ENST00000274170.4_Missense_Mutation_p.H765Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.H765Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	765					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCAAGGTAGTGATAATCCTGG	0.448000													25	34					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71838717	71838717	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:71838717G>A	ENST00000258104.3	+	38	4405	c.4128G>A	c.(4126-4128)aaG>aaA	p.K1376K	DYSF_ENST00000429174.2_Silent_p.K1376K|DYSF_ENST00000410041.1_Silent_p.K1394K|DYSF_ENST00000394120.2_Silent_p.K1377K|DYSF_ENST00000409366.1_Silent_p.K1377K|DYSF_ENST00000409582.3_Silent_p.K1393K|DYSF_ENST00000409744.1_Silent_p.K1363K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.K1393K|DYSF_ENST00000409651.1_Silent_p.K1408K|DYSF_ENST00000413539.2_Silent_p.K1407K|DYSF_ENST00000410020.3_Silent_p.K1394K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1376						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTCCGGAAGAACCCCAACT	0.572000													10	30					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43695197	43695197	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43695197T>A	ENST00000395809.1	-	7	3282	c.776A>T	c.(775-777)aAg>aTg	p.K259M	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K259M|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K267M			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	259	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCTGTAGGTCTTGGTCAGGTC	0.617000													18	28					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905934	144905934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:144905934C>T	ENST00000370490.1	+	1	6246	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S664F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	664						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACGTAAGCTCCTTTCAATTA	0.468000													62	73					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400818	78400818	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:78400818C>T	ENST00000397909.2	+	8	1673	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	NAV3_ENST00000536525.2_Silent_p.S500S|NAV3_ENST00000266692.7_Silent_p.S500S|NAV3_ENST00000228327.6_Silent_p.S500S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	500						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGACCTCCAAAATTGCAA	0.413000										HNSCC(70;0.22)			56	14					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22028022	22028022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22028022G>A	ENST00000308271.9	-	22	3344	c.2696C>T	c.(2695-2697)cCa>cTa	p.P899L	USP48_ENST00000374732.3_Missense_Mutation_p.P437L|USP48_ENST00000529637.1_Missense_Mutation_p.P911L|USP48_ENST00000400301.1_Missense_Mutation_p.P899L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	899					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTCTCCATCTGGTTTAGCTTC	0.428000													7	36					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640715	21640715	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21640715C>A	ENST00000328843.6	+	17	3374	c.3343C>A	c.(3343-3345)Cct>Act	p.P1115T	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1115	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						GGACATGAAGCCTTTCAAAGT	0.363000									Kartagener syndrome				32	22					1.30998e-17	1.33394e-17	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580862	140580862	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140580862C>T	ENST00000354757.3	+	1	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	PCDHB11_ENST00000536699.1_Silent_p.S140S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		505	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGTCTCCATCAACACAG	0.657000													75	133					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134015380	134015380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:134015380G>A	ENST00000398844.2	+	8	1631	c.1343G>A	c.(1342-1344)aGg>aAg	p.R448K	SEC24A_ENST00000322887.4_Missense_Mutation_p.R448K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	448	Zinc finger-like.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGATCAAAGGAGATGGAAG	0.388000													33	59					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27453223	27453223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:27453223G>A	ENST00000295736.5	-	12	1719	c.1649C>T	c.(1648-1650)cCt>cTt	p.P550L	SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	550						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTGAAACACAGGAATCTTTCT	0.418000													12	22					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912704	77912704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77912704G>A	ENST00000321110.1	-	2	1509	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	405							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTCTGCAGAGGAACTTTTCCC	0.522000													46	50					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335918	57335918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57335918C>T	ENST00000326441.9	-	4	469	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G36R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	36					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGACCTTCTCCTATGATGACA	0.478000													36	44					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33658768	33658768	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33658768C>T	ENST00000374316.5	+	53	8167	c.7107C>T	c.(7105-7107)atC>atT	p.I2369I	ITPR3_ENST00000605930.1_Silent_p.I2369I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2369					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCCGCTCCATCCTGCTGACAG	0.572000													4	61					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000													32	57					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18972465	18972465	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:18972465G>A	ENST00000379942.4	-	2	809	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	48					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGATACTGTAGATGTTATCCC	0.567000													55	53					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498114	118498114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118498114C>T	ENST00000361417.2	+	7	986	c.575C>T	c.(574-576)tCt>tTt	p.S192F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGAGCTCTATTGAGAAG	0.572000													33	44					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054043	143054043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:143054043G>A	ENST00000409408.1	-	6	2307	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCATCTGACGACCCCAGACA	0.552000													24	48					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961560	85961560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:85961560G>C	ENST00000383699.3	+	6	1194	c.567G>C	c.(565-567)aaG>aaC	p.K189N	CADM2_ENST00000405615.2_Missense_Mutation_p.K182N|CADM2_ENST00000407528.2_Missense_Mutation_p.K180N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	180	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAAATCGCAAGACATTCACTG	0.398000													18	34					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389614	48389614	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389614G>A	ENST00000224600.4	-	1	1377	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	422	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGCTTGCCGGATAGCCTCG	0.632000													20	40					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714098	70714098	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70714098C>T	ENST00000530196.1	-	0	420					NR_003951.1																						GCACGCTCATCTGTGTAGGTG	0.502000													29	85					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161893	142161893	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142161893T>A	ENST00000519811.1	+	7	1101	c.1031T>A	c.(1030-1032)tTc>tAc	p.F344Y	DENND3_ENST00000262585.2_Missense_Mutation_p.F264Y|DENND3_ENST00000424248.1_Missense_Mutation_p.F264Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	264										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACGTCCTTCCTGATGGGC	0.557000													43	74					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11332856	11332856	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11332856G>A	ENST00000294618.7	-	27	3320	c.3309C>T	c.(3307-3309)ttC>ttT	p.F1103F	DOCK6_ENST00000319867.7_Silent_p.F442F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1103					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCTGCTGCCGGAATGGTCCAC	0.622000													8	6					0	0	1	0	0
DNAL1	83544	broad.mit.edu	37	14	74138254	74138254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74138254G>A	ENST00000553645.1	+	5	259	c.218G>A	c.(217-219)aGg>aAg	p.R73K	DNAL1_ENST00000554871.1_Missense_Mutation_p.R34K|DNAL1_ENST00000540526.1_Missense_Mutation_p.R34K|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_5'UTR	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	73										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAAAACTTGAGGATATTATCT	0.224000													3	6					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75348709	75348709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75348709C>T	ENST00000334220.4	+	1	114	c.53C>T	c.(52-54)gCc>gTc	p.A18V	DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	18					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCGCTCTCCGCCTTCCAGAAG	0.731000													7	6					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714879	52714879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52714879G>A	ENST00000293670.3	-	1	303	c.241C>T	c.(241-243)Cca>Tca	p.P81S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	81	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGATGCATGGGGGGCTGGGT	0.692000													30	61					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322702	134322702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:134322702G>A	ENST00000508956.1	-	10	1699	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	KY_ENST00000423778.2_Missense_Mutation_p.P569S|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AAGCTCTCAGGGAACATGGGC	0.493000													11	36					0	0	1	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182459	82182459	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:82182459G>A	ENST00000258169.4	-	5	410	c.360C>T	c.(358-360)acC>acT	p.T120T	MPHOSPH6_ENST00000563504.1_Silent_p.T91T	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	120					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCCCCACCAAGGTCTCATATC	0.378000													48	84					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309825	56309825	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56309825G>A	ENST00000528616.2	-	1	932	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTCATCTCAGGACATTCTTCA	0.388000													11	17					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127825806	127825806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:127825806G>A	ENST00000316724.5	-	7	956	c.545C>T	c.(544-546)gCc>gTc	p.A182V	BIN1_ENST00000357970.3_Missense_Mutation_p.A182V|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.A182V|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000346226.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	182	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCACTGGGGGGCGGCTTTCTC	0.577000											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5772975	5772975	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5772975C>T	ENST00000328090.5	+	11	1638	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	338																	AGAGTTTTTCCATTGAGTCCA	0.453000													26	45					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40091560	40091560	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40091560G>A	ENST00000591658.1	+	0	273							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATCCCTGAAGGATGCTGAGGC	0.527000													18	23					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49959015	49959015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49959015C>T	ENST00000376056.2	-	5	472	c.322G>A	c.(322-324)Gat>Aat	p.D108N	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D108N|AKAP4_ENST00000358526.2_Missense_Mutation_p.D117N|AKAP4_ENST00000376064.3_Missense_Mutation_p.D108N			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	117					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGGAGATCACTGAGAAGC	0.453000													16	29					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744122	45744122	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:45744122G>A	ENST00000297323.7	+	17	2746	c.2724G>A	c.(2722-2724)atG>atA	p.M908I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	908					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAAAGCTCATGGAAAAAGACT	0.498000													22	49					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2256574	2256574	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2256574G>A	ENST00000569417.1	+	4	612	c.258G>A	c.(256-258)aaG>aaA	p.K86K	MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Silent_p.K86K|MLST8_ENST00000382450.4_Silent_p.K85K|MLST8_ENST00000397124.1_Silent_p.K86K|MLST8_ENST00000301725.7_Silent_p.K105K|MLST8_ENST00000301724.10_Silent_p.K86K|MLST8_ENST00000565250.1_Silent_p.K86K	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	86					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	p.K86N(3)		large_intestine(3)|lung(2)|skin(1)	6						GCGTCAACAAGAACATCGCGT	0.582000													76	116					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105657400	105657400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:105657400C>G	ENST00000224950.3	-	7	826	c.659G>C	c.(658-660)aGa>aCa	p.R220T	OBFC1_ENST00000369764.1_Missense_Mutation_p.R220T|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	220					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTCTGCACTCTGTTCTCCAT	0.517000													34	72					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565258	58565258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58565258G>A	ENST00000282326.1	+	6	1313	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGAGCAAGGGCCCCCGGGA	0.662000													25	18					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15531139	15531139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:15531139G>A	ENST00000383785.2	-	2	237	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	COLQ_ENST00000383781.4_Missense_Mutation_p.P28S|COLQ_ENST00000603808.1_Missense_Mutation_p.P38S|COLQ_ENST00000383786.5_Missense_Mutation_p.P38S|COLQ_ENST00000383787.2_Missense_Mutation_p.P38S|COLQ_ENST00000435459.2_Missense_Mutation_p.P28S|COLQ_ENST00000383788.5_Missense_Mutation_p.P38S			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	38					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCCAGGCTGGGAAGGGCTGTT	0.612000													11	19					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256527	16256527	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16256527C>T	ENST00000375759.3	+	11	3996	c.3792C>T	c.(3790-3792)gtC>gtT	p.V1264V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1264					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCCAGTGTCCGACATGGTT	0.463000													19	72					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033107	30033107	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30033107G>A	ENST00000328224.6	-	2	2352	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	373						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGTTTCCACGATGAAGAAGG	0.468000													29	58					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87032374	87032374	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:87032374G>A	ENST00000340353.7	+	14	1512	c.1310G>A	c.(1309-1311)tGa>tAa	p.*437*	TMEM135_ENST00000305494.5_Silent_p.*459*|TMEM135_ENST00000532959.1_Silent_p.*330*|TMEM135_ENST00000535167.1_Silent_p.*320*	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	0						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGTTTTCCTGAAGATGACTG	0.403000													24	44					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715438	165715438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165715438C>T	ENST00000543069.1	-	2	642	c.61G>A	c.(61-63)Gac>Aac	p.D21N	C6orf118_ENST00000230301.8_Missense_Mutation_p.D125N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	125										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCGGGGTGTCCTGGGCCTCA	0.632000													43	26					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414543	74414543	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:74414543G>A	ENST00000376332.3	-	8	1249	c.751_splice	c.e8-1	p.A251_splice	CHRDL2_ENST00000263671.5_Splice_Site_p.A251_splice|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	251	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CATGCACACAGGCTGAATAAG	0.657000													8	10					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633840	7633840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7633840C>T	ENST00000359156.4	-	15	3462	c.3260G>A	c.(3259-3261)gGa>gAa	p.G1087E	CD163_ENST00000432237.2_Missense_Mutation_p.G1087E|CD163_ENST00000396620.3_Missense_Mutation_p.G1120E|CD163_ENST00000541972.1_Missense_Mutation_p.G1075E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1087					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAAGTTCTCTCCTCTTGAGGA	0.423000													36	52					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845343	101845343	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:101845343C>T	ENST00000360264.3	+	18	2819	c.2799C>T	c.(2797-2799)ccC>ccT	p.P933P	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.P866P|CUX1_ENST00000292535.7_Silent_p.P922P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.P900P|CUX1_ENST00000546411.2_Silent_p.P820P|CUX1_ENST00000556210.1_Silent_p.P764P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	922					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGTCCAAGCCCACCAAGCCCT	0.642000													40	91					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505528	18505528	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18505528C>T	ENST00000536719.1	-	8	866	c.732G>A	c.(730-732)gaG>gaA	p.E244E	TSG101_ENST00000357193.3_Silent_p.E139E|TSG101_ENST00000251968.3_Silent_p.E244E			Q99816	TS101_HUMAN	tumor susceptibility 101	244					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GATCCATTTCCTCCTTCATCC	0.522000													79	204					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7232113	7232113	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7232113C>T	ENST00000379938.2	+	10	4318	c.3781C>T	c.(3781-3783)Cta>Tta	p.L1261L	RREB1_ENST00000334984.6_Silent_p.L1261L|RREB1_ENST00000349384.6_Silent_p.L1261L|RREB1_ENST00000379933.3_Silent_p.L1261L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1261					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCAGCTCCCTACAGAGGCA	0.602000													16	12					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14511982	14511982	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14511982C>T	ENST00000358970.5	-	11	1543	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	515										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTTCTTATGACTAAGAGAAAG	0.323000													10	16					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1339609	1339609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1339609G>A	ENST00000446702.2	+	7	1322	c.695G>A	c.(694-696)cGt>cAt	p.R232H	CNTN6_ENST00000539053.1_Missense_Mutation_p.R160H|CNTN6_ENST00000350110.2_Missense_Mutation_p.R232H			Q9UQ52	CNTN6_HUMAN	contactin 6	232	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGAAGTGCGTTTTCCTGAA	0.358000													31	77					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413359	65413359	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:65413359T>A	ENST00000519389.1	+	8	1589	c.1410T>A	c.(1408-1410)ttT>ttA	p.F470L	HEPH_ENST00000374727.3_Missense_Mutation_p.F419L|HEPH_ENST00000343002.2_Missense_Mutation_p.F416L|HEPH_ENST00000336279.5_Missense_Mutation_p.F149L|HEPH_ENST00000419594.1_Missense_Mutation_p.F419L|HEPH_ENST00000441993.2_Missense_Mutation_p.F419L			Q9BQS7	HEPH_HUMAN	hephaestin	416	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGATAAGTTTTTCCAGAAGA	0.388000													20	32					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173407	113173407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113173407G>A	ENST00000401783.2	-	37	6920	c.6584C>T	c.(6583-6585)cCt>cTt	p.P2195L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P121L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2195	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGTCGGTATAGGACTACTCCA	0.502000													29	22					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122047602	122047602	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:122047602C>T	ENST00000334010.7	-	18	3153	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.R907Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.R913Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.R907Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	913	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACTGTCATTTCGGAGGAAATT	0.443000													8	10					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134648169	134648169	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:134648169G>A	ENST00000368586.5	-	48	6955	c.6855C>T	c.(6853-6855)ctC>ctT	p.L2285L	TTC40_ENST00000263170.5_Silent_p.L446L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	446										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCCTTGGAGAGGCTGAGCA	0.642000													11	11					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750010	8750010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:8750010C>T	ENST00000276282.6	-	1	1145	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	187										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGATCCACGTCCAGGGTGCGC	0.687000													8	9					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51440675	51440675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51440675G>A	ENST00000335891.5	-	16	3029	c.3020C>T	c.(3019-3021)cCc>cTc	p.P1007L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1456					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTCATCAGAGGGAGAGAAGTC	0.532000													14	16					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67154023	67154023	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67154023C>T	ENST00000219139.3	+	2	261	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.L25L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	25										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGGAATGCCTCTGGCTCAGGC	0.458000													45	61					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177089908	177089908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:177089908G>A	ENST00000393643.2	+	24	3373	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	WDR17_ENST00000508596.1_Missense_Mutation_p.E1026K|WDR17_ENST00000280190.4_Missense_Mutation_p.E1065K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1040K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1065										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGATGTACTGAAGAGATAAA	0.338000													30	43					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324258	57324258	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57324258G>A	ENST00000293502.1	-	2	455	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	104						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTTCACCAGGGCCCAGAGGC	0.562000													17	26					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:158896490G>A	ENST00000262178.2	-	4	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_ENST00000402066.1_Silent_p.F246F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498000													30	39					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371888	33371888	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33371888C>T	ENST00000428849.2	+	6	1188	c.738C>T	c.(736-738)tcC>tcT	p.S246S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	246					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACTGATGTCCCAACTAGAGG	0.567000													5	28					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240232	27240232	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:27240232G>A	ENST00000577226.1	-	9	1703	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	PHF12_ENST00000332830.4_Missense_Mutation_p.P453S|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453S			Q96QT6	PHF12_HUMAN	PHD finger protein 12	453	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATGCGAAGGCATCTGCTTA	0.498000													53	76					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128324382	128324382	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:128324382G>A	ENST00000389524.4	+	5	503	c.450G>A	c.(448-450)agG>agA	p.R150R	MYO7B_ENST00000428314.1_Silent_p.R150R|MYO7B_ENST00000409816.2_Silent_p.R150R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	150	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAACAAGAGGGACCAGTGCT	0.587000													11	16					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060388	116060388	+	Missense_Mutation	SNP	C	C	T	rs17852236		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:116060388C>T	ENST00000369271.3	-	14	1904	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R588Q|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R535Q|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	535					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGGTACACTCGGTCAGATTC	0.577000													23	36					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113822857	113822857	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:113822857C>T	ENST00000512097.3	+	7	2383	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	KCNN2_ENST00000264773.3_Silent_p.F455F|KCNN2_ENST00000503706.1_Silent_p.F107F|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	455	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AACGAAAATTCCTGCAAGCTA	0.328000													23	43					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90445960	90445960	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90445960C>T	ENST00000405460.2	+	88	18642	c.18546C>T	c.(18544-18546)ttC>ttT	p.F6182F	GPR98_ENST00000425867.2_Silent_p.F1843F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6182					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCCTTTTTCACGCCCGGGA	0.507000													3	9					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832782	150832782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150832782G>A	ENST00000370357.4	+	11	1278	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	345						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCCAGAGGACTCAGTGGA	0.592000													39	37					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501730	11501730	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11501730G>A	ENST00000423059.3	-	10	2660	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	803	TSP type-1 8.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAGCTGAATGATGACCCGAT	0.502000										HNSCC(18;0.044)			52	47					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183908159	183908159	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183908159C>T	ENST00000361927.4	-	12	1988	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	COLGALT2_ENST00000367521.1_Silent_p.K147K|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367520.3_Silent_p.K276K	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CATAATACTCCTTGTACTCGG	0.547000													18	18					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23848307	23848307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23848307G>A	ENST00000359320.3	+	3	791	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	CMTM5_ENST00000555731.1_Missense_Mutation_p.R78Q|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.R183Q|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Missense_Mutation_p.R65Q	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	183	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GTGACCTCCCGGGACGGAGCT	0.577000													8	20					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86071528	86071528	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:86071528G>A	ENST00000377332.3	-	6	1107	c.999C>T	c.(997-999)ggC>ggT	p.G333G	ST3GAL5_ENST00000393808.3_Silent_p.G310G|ST3GAL5_ENST00000393805.1_Silent_p.G305G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	333					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCTTATCTCGGCCCCAGAACC	0.428000													23	29					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822416	72822416	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72822416G>A	ENST00000268489.5	-	10	10431	c.9759C>T	c.(9757-9759)ccC>ccT	p.P3253P	ZFHX3_ENST00000397992.5_Silent_p.P2339P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3253					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGACAGGCAGGGGTTCCCCTT	0.582000													67	128					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216488	46216488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:46216488C>T	ENST00000371374.1	-	3	562	c.371G>A	c.(370-372)gGg>gAg	p.G124E	RCAN2_ENST00000306764.7_Missense_Mutation_p.G124E|RCAN2_ENST00000405162.1_Missense_Mutation_p.G124E|RCAN2_ENST00000330430.6_Missense_Mutation_p.G78E	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	78					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TAATTTTTTCCCTCTGAATTG	0.348000													3	23					0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131822063	131822063	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:131822063G>A	ENST00000245414.4	-	7	805	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	IRF1_ENST00000405885.2_Silent_p.L183L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	183					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CATGGCGACAGTGCTGGGGAA	0.572000													18	53					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505307	11505307	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:11505307C>T	ENST00000379237.1	-	15	2014	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	USP6NL_ENST00000277575.5_Silent_p.E557E	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	540						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTTCCCGTCCTCAGCATCCA	0.662000													37	89					0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	780842	780842	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:780842C>T	ENST00000540986.1	-	9	2322		c.e9+1		NARFL_ENST00000562862.1_Splice_Site|NARFL_ENST00000568545.1_Splice_Site|NARFL_ENST00000251588.2_Splice_Site			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCAGGAGCTACCTGAGGGGCA	0.642000													29	42					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757680	3757680	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3757680C>T	ENST00000252322.1	-	11	1614	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	382					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GAGGTGCTCTCAGCACAGGCC	0.597000													16	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414056	179414056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179414056C>T	ENST00000589042.1	-	339	92521	c.92297G>A	c.(92296-92298)tGg>tAg	p.W30766*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W28198*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W29125*|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21826*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21893*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21701*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29125	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTTACCCATCTTGTGCT	0.418000													19	56					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564270	140564270	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140564270G>A	ENST00000361016.2	+	1	3291	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGCGGCTGTGCAGGA	0.677000													85	123					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91178121	91178121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91178121C>T	ENST00000371795.4	+	2	1378	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.H341Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	389							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAGGAATTTCACCGTAAATC	0.428000													12	27					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666252	84666252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:84666252G>A	ENST00000284136.6	-	10	1187	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	382	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCACCCAACGATGGTCTGCA	0.398000													35	60					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525075	9525075	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9525075T>A	ENST00000592904.1	-	5	2602	c.526A>T	c.(526-528)Aga>Tga	p.R176*	ZNF266_ENST00000592292.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588933.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588221.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.R176*			Q14584	ZN266_HUMAN	zinc finger protein 266	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTGTGAGTTCTTAAATGTCCC	0.438000													35	11					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64727453	64727453	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64727453C>T	ENST00000557772.1	-	4	665	c.666G>A	c.(664-666)gaG>gaA	p.E222E	ESR2_ENST00000341099.4_Silent_p.E222E|ESR2_ENST00000353772.3_Silent_p.E222E|ESR2_ENST00000553796.1_Silent_p.E222E|ESR2_ENST00000555278.1_Silent_p.E222E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.E222E|ESR2_ENST00000357782.2_Silent_p.E222E|ESR2_ENST00000358599.5_Silent_p.E222E|ESR2_ENST00000542956.1_Silent_p.E222E|ESR2_ENST00000267525.6_Silent_p.E222E	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	222	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACCCACATCTCTCTCTCCGGG	0.572000													21	30					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29999288	29999288	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29999288C>T	ENST00000308893.4	+	16	4738	c.3695C>T	c.(3694-3696)cCc>cTc	p.P1232L	TAOK2_ENST00000416441.2_Missense_Mutation_p.P1059L|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1119L|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1232					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGGGCCCTGCCCCCCTGGAGG	0.657000													8	9					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691188	129691188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129691188C>T	ENST00000358303.4	-	1	103	c.19G>A	c.(19-21)Gga>Aga	p.G7R	ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7R|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	7					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AACGCTTGTCCCTCACAGGGC	0.577000													24	61					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36509916	36509916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36509916G>A	ENST00000360535.4	-	9	1294	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S356F	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	356	CAP-Gly 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTGGACACGGAGGCAAAGAG	0.627000													33	54					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017095	32017095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32017095G>A	ENST00000375244.3	-	28	9910	c.9709C>T	c.(9709-9711)Ctc>Ttc	p.L3237F	TNXB_ENST00000375247.2_Missense_Mutation_p.L3235F			P22105	TENX_HUMAN	tenascin XB	3282	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTCGTGGAGGCCGTACAGA	0.697000													18	10					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133347419	133347419	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:133347419C>T	ENST00000260810.5	-	15	2810	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	893					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTGACTGGGCCTCTTTCAGTT	0.388000								Other conserved DNA damage response genes					5	8					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026190	182026190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:182026190G>C	ENST00000339948.3	-	2	1163	c.956C>G	c.(955-957)tCc>tGc	p.S319C		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTGGTCGGAGGACCAGGTGTA	0.657000													5	25					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001378	11001378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11001378G>A	ENST00000324288.8	+	11	2162	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	677	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TACCCTACAGGAGGACCAGTT	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								21	35					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858009	52858009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52858009G>T	ENST00000266041.4	-	10	1279	c.1183C>A	c.(1183-1185)Ccc>Acc	p.P395T	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.P395T|ITIH4_ENST00000434759.3_Missense_Mutation_p.P307T|ITIH4_ENST00000346281.5_Missense_Mutation_p.P395T|ITIH4_ENST00000485816.1_Missense_Mutation_p.P395T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	395	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCTCCTGGGGTTAGTCTCC	0.542000													18	26					3.51602e-12	3.56078e-12	1	1	0
NBAS	51594	broad.mit.edu	37	2	15519940	15519940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15519940G>A	ENST00000281513.5	-	30	3401	c.3376C>T	c.(3376-3378)Ctt>Ttt	p.L1126F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1006F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1126										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						GAGCACAGAAGGCTTTCTGTA	0.423000													25	51					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													7	137					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57606241	57606241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57606241G>A	ENST00000243077.3	+	89	14004	c.13538G>A	c.(13537-13539)gGg>gAg	p.G4513E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4513	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTACATGGGGGGCCATGGC	0.647000													18	41					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134469	96134469	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:96134469G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GCAGATCACGGGAATTACAAG	0.413000			T	TRA@	T-ALL								28	52					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7286260	7286260	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7286260C>T	ENST00000537408.1	+	2	853	c.315C>T	c.(313-315)gcC>gcT	p.A105A	CLSTN3_ENST00000266546.6_Silent_p.A93A			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	93	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGATCCGGGCCAAGGAGCCTG	0.632000													25	44					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467469	74467469	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74467469C>T	ENST00000249842.3	+	2	627	c.270C>T	c.(268-270)gcC>gcT	p.A90A	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.A90A	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	90					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACGGTGGCCGCCGGAGCCC	0.642000													20	35					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184769	19184769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:19184769C>T	ENST00000275461.3	-	1	275	c.217G>A	c.(217-219)Gac>Aac	p.D73N	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	73					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tcttctccgtccccctggtcc	0.647000													9	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584295	179584295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179584295G>A	ENST00000589042.1	-	82	24148	c.23924C>T	c.(23923-23925)tCc>tTc	p.S7975F	TTN_ENST00000342992.6_Missense_Mutation_p.S6731F|TTN_ENST00000591111.1_Missense_Mutation_p.S7658F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7658	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATGGACGGATACAGTGCA	0.388000													62	78					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775223	100775223	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100775223C>T	ENST00000223095.4	+	4	730	c.573C>T	c.(571-573)gcC>gcT	p.A191A	SERPINE1_ENST00000445463.2_Silent_p.A176A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	191					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGGTGAATGCCCTCTACTTCA	0.557000													74	162					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48543904	48543904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:48543904C>T	ENST00000293255.2	-	3	326	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	66	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGTTCCATCTCCGTGGGCATG	0.542000													29	38					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672226	61672226	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61672226C>T	ENST00000394836.2	-	6	943	c.786_splice	c.e6+1	p.E262_splice	RAB3IL1_ENST00000301773.5_Splice_Site_p.E236_splice	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	262							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CATGCCTCACCTCCTGCATTG	0.682000													5	4					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435316	104435316	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:104435316G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTTAAGTAAAGATTTGGAAGT	0.388000													13	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90024571	90024571	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90024571G>A	ENST00000405460.2	+	49	10343	c.10247G>A	c.(10246-10248)gGa>gAa	p.G3416E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3416					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAACAAGGGAGGCTCTGTG	0.488000													45	74					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52961457	52961457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52961457G>A	ENST00000549343.1	-	9	1456	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	KRT74_ENST00000305620.2_Missense_Mutation_p.S459F			Q7RTS7	K2C74_HUMAN	keratin 74	459	Tail.					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)		GCTCACAGAGGATGGATTCTC	0.458000													20	33					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15607791	15607791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15607791G>A	ENST00000281513.5	-	18	2040	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	NBAS_ENST00000441750.1_Missense_Mutation_p.S672F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672										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						CATTTACTTGGAAAAGTTCAC	0.323000													6	16					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4923831	4923831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4923831C>T	ENST00000320785.5	+	20	2152	c.1795C>T	c.(1795-1797)Cac>Tac	p.H599Y	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	599					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCTTCAACCACCCGGAGCA	0.577000													20	40					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621896	4621896	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4621896G>A	ENST00000300747.5	-	7	1357	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	356	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTAGTGCCGGCCTGAGGAGA	0.537000													10	22					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	902274	902274	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:902274G>A	ENST00000449825.1	-	4	674	c.318C>T	c.(316-318)atC>atT	p.I106I	CHID1_ENST00000528581.1_Silent_p.I131I|CHID1_ENST00000436108.2_Silent_p.I106I|CHID1_ENST00000336845.5_Silent_p.I131I|CHID1_ENST00000429789.2_Silent_p.I106I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.I106I|CHID1_ENST00000454838.2_Silent_p.I131I|CHID1_ENST00000323541.7_Silent_p.I136I	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	106					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGACGGGTGAGATCTGTGTGA	0.557000													39	46					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439592	4439592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4439592C>T	ENST00000329078.3	+	11	1688	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	493					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACTAAGGACTCCCCGCTCTGG	0.637000													20	49					0	0	1	0	0
EMC2	9694	broad.mit.edu	37	8	109491300	109491300	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109491300T>G	ENST00000220853.3	+	10	803	c.768T>G	c.(766-768)taT>taG	p.Y256*	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		ACATGAAATATGCTAGTTGGG	0.318000													27	34					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499396	75499396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75499396C>T	ENST00000360639.2	+	2	1327	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	C15orf39_ENST00000394987.4_Missense_Mutation_p.P336L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P336L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	336										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTTACATTCCCCCACTGGGG	0.687000													24	61					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72608871	72608871	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72608871A>C	ENST00000392619.1	-	4	655	c.620T>G	c.(619-621)cTg>cGg	p.L207R	CD300E_ENST00000426295.2_Missense_Mutation_p.L221R|CD300E_ENST00000328630.3_Missense_Mutation_p.L180R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	180						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCAGCTTCAGAAGGACCAC	0.617000													36	56					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661444	18661444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:18661444G>A	ENST00000251296.1	+	4	747	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	122	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGCATCTACGACCGCGCCAC	0.622000													27	21					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165809838	165809838	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165809838G>A	ENST00000366882.1	-	15	1513	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	PDE10A_ENST00000539869.2_Silent_p.T463T|PDE10A_ENST00000354448.4_Silent_p.T453T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	453					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GCACGGGAAGGGTGAATTGCA	0.418000													43	22					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118124489	118124489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118124489G>A	ENST00000365713.2	+	4	1421	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D461N|LONRF3_ENST00000422289.2_Missense_Mutation_p.D205N|LONRF3_ENST00000304778.7_Missense_Mutation_p.D420N			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	461					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D461Y(1)|p.D420Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCATCTTTCGACGCATCTGA	0.493000													58	56					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140056969	140056969	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140056969G>A	ENST00000371561.3	+	13	2961		c.e13+1		GRIN1_ENST00000471122.1_Splice_Site|GRIN1_ENST00000371546.4_Splice_Site|GRIN1_ENST00000371550.4_Splice_Site|GRIN1_ENST00000371555.4_Splice_Site|GRIN1_ENST00000371559.4_Splice_Site|GRIN1_ENST00000371560.3_Splice_Site|GRIN1_ENST00000371553.3_Splice_Site|GRIN1_ENST00000315048.3_Splice_Site|GRIN1_ENST00000350902.5_Splice_Site	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1						ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATCGGGGAAGGTAAGGCCCCG	0.697000													13	1					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775222	100775222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100775222C>T	ENST00000223095.4	+	4	729	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A176V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	191					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CTGGTGAATGCCCTCTACTTC	0.557000													74	160					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185018506	185018506	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:185018506G>A	ENST00000296741.2	-	7	1150	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	337					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ATCCAAAACGGAAGCATCTCT	0.602000													20	30					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396184	396184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:396184G>A	ENST00000262320.3	-	2	1213	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.S281F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	281	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCTACTGGAGGAGACCCTCGG	0.607000													32	26					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4843526	4843526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:4843526C>T	ENST00000379333.1	-	14	1776	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G348R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G462R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	462					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGGGCTGCTCCGCACTGTATC	0.572000													11	29					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128976644	128976644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128976644C>T	ENST00000314797.6	+	10	916	c.812C>T	c.(811-813)gCc>gTc	p.A271V		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	271					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TATGAAGCCGCCTCGGCCATC	0.557000													83	134					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12809655	12809655	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12809655G>A	ENST00000380668.5	+	1	167	c.39G>A	c.(37-39)caG>caA	p.Q13Q	PRPS2_ENST00000489404.1_Silent_p.Q13Q|PRPS2_ENST00000398491.2_Silent_p.Q13Q	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	13					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						GCTCGCATCAGGACCTGTCCC	0.711000													18	26					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752627	36752627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:36752627C>T	ENST00000354618.5	+	4	1020	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R266C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	266	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGGTCACCCCGTCCTAGCCC	0.617000			T	USP6	aneurysmal bone cysts								43	40					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37431157	37431157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37431157G>A	ENST00000378621.3	+	1	336	c.34G>A	c.(34-36)Gat>Aat	p.D12N	LANCL3_ENST00000378619.3_Missense_Mutation_p.D12N|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	12							catalytic activity			lung(4)|pancreas(1)	5						CAATCGCTTCGATGACTACCA	0.667000													9	24					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224578	44224578	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44224578G>A	ENST00000393812.3	-	2	192	c.49C>T	c.(49-51)Cta>Tta	p.L17L	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.L17L|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	17					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGCCCCTAGGGAGGGGAAC	0.602000													9	37					0	0	1	0	0
MRPL48	51642	broad.mit.edu	37	11	73555875	73555875	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73555875G>T	ENST00000535529.1	+	6	383	c.171G>T	c.(169-171)gtG>gtT	p.V57V	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000310614.7_Silent_p.V75V			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	75					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						AGGGAAAAGTGGAAGTGAGAG	0.333000													13	28					1.49906e-05	1.50627e-05	1	1	0
CAPN6	827	broad.mit.edu	37	X	110494328	110494328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110494328C>A	ENST00000324068.1	-	8	1142	c.975G>T	c.(973-975)atG>atT	p.M325I	CAPN6_ENST00000541758.1_Missense_Mutation_p.M70I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	325	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTCCAAGCTCATCCTGAATG	0.438000													126	229					2.02856e-45	2.07769e-45	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36113525	36113525	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36113525C>T	ENST00000203166.5	+	18	1699	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	558					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCCAGGCATCCCAGGAAAAAC	0.562000													14	25					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137329	40137329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40137329G>A	ENST00000278198.2	-	2	2477	c.514C>T	c.(514-516)Cct>Tct	p.P172S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428000													32	47					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56078980	56078980	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56078980C>T	ENST00000257879.6	-	25	3491	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K	ITGA7_ENST00000555728.1_Silent_p.K1136K|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_Silent_p.K1096K|ITGA7_ENST00000452168.2_Silent_p.K999K|ITGA7_ENST00000347027.6_Silent_p.K1086K|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1136					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTCCTCCTTGAACTGCT	0.637000													28	57					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80465430	80465430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:80465430C>T	ENST00000539156.1	+	8	2809	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261S|FAH_ENST00000407106.1_Missense_Mutation_p.P261S|FAH_ENST00000261755.5_Missense_Mutation_p.P261S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTGTCTCTCCGTGGGTGGT	0.577000									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	82					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981622	40981622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:40981622G>A	ENST00000313164.9	+	18	2838	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	827	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGATGCAGAGGGCAGAGCAT	0.577000													9	11					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186022089	186022089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186022089C>T	ENST00000271588.4	+	43	6812	c.6583C>T	c.(6583-6585)Cca>Tca	p.P2195S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2195S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2195	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTAGTCCCCCCAAATATTGG	0.338000													7	43					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148599358	148599358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148599358G>A	ENST00000296046.3	+	7	678	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTCTTGGACCGAATGAATTTT	0.338000													14	35					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62854481	62854481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62854481G>T	ENST00000536311.1	+	15	2859	c.2495G>T	c.(2494-2496)tGt>tTt	p.C832F	MYT1_ENST00000328439.1_Missense_Mutation_p.C805F|MYT1_ENST00000360149.4_Missense_Mutation_p.C507F			Q01538	MYT1_HUMAN	myelin transcription factor 1	805					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCCCTGGCTGTGACGGCAGC	0.642000													57	97					2.67592e-24	2.73319e-24	1	1	0
TBC1D29	26083	broad.mit.edu	37	17	28889931	28889931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:28889931C>T	ENST00000580161.1	+	5	2720	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	TBC1D29_ENST00000579181.1_Missense_Mutation_p.P75S|TBC1D29_ENST00000584297.1_Intron			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	75						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				ACCTGCCACCCCCAGGTGGGC	0.522000													24	44					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336948	42336948	+	Splice_Site	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42336948C>G	ENST00000262418.6	-	8	766	c.609_splice	c.e8-1	p.G204_splice	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	204					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCCCCATCTCCCTGTGGGAA	0.592000													26	27					0	0	1	0	0
DEFB123	245936	broad.mit.edu	37	20	30028510	30028510	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:30028510C>T	ENST00000376309.3	+	1	189	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	3					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCATGAAGCTCCTTTTGCTGA	0.557000													124	212					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50330826	50330826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50330826G>A	ENST00000336307.1	-	4	1377	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	HYAL3_ENST00000513170.1_Missense_Mutation_p.R90W|HYAL3_ENST00000450982.1_Missense_Mutation_p.R339W|HYAL3_ENST00000415204.1_Missense_Mutation_p.R120W|HYAL3_ENST00000359051.3_Missense_Mutation_p.R339W	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	369	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCTCGCCGGGCACAGCGC	0.617000													22	32					0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778022	56778022	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:56778022G>A	ENST00000423391.1	-	1	614	c.513C>T	c.(511-513)gcC>gcT	p.A171A	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	171						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATGAGGCAGGGCATAACCTT	0.547000													22	53					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066490	18066490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:18066490C>T	ENST00000506618.2	-	1	996	c.916G>A	c.(916-918)Ggg>Agg	p.G306R		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	306					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ACAGATTCCCCATTATGAGTT	0.343000													75	181					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80332634	80332634	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:80332634G>A	ENST00000313135.2	+	1	482	c.434G>A	c.(433-435)aGc>aAc	p.S145N		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	145						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ACCGTCATGAGCAGCGAGCGC	0.687000													10	13					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32164198	32164198	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32164198G>A	ENST00000373672.3	-	5	792	c.276C>T	c.(274-276)ttC>ttT	p.F92F	COL16A1_ENST00000271069.6_Silent_p.F92F|COL16A1_ENST00000373668.3_Silent_p.F92F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	92	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GACCCCGAGGGAATACTCTTC	0.572000													23	24					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037640	64037640	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64037640G>A	ENST00000544785.1	-	2	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGCTGCCCAGGGCAGTGGGAA	0.597000													14	15					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542542	2542542	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2542542C>T	ENST00000358864.1	+	4	455	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	147	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTGGGGAGTCCCTGTCCGAG	0.612000													29	48					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283787	151283787	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151283787C>T	ENST00000509345.2	-	0	549																		p.D76N(1)									AGAGTGAAATCGATGGCAGTG	0.612000													45	90					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135195063	135195063	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:135195063C>T	ENST00000278060.5	+	3	851	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PAOX_ENST00000480071.2_Silent_p.F256F|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.F256F|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	394					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGGTCCTTCCAGGAGGCAG	0.587000													24	36					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265623	22265623	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22265623G>A	ENST00000390430.2	+	0	165																											TGCTGGGGATGATTTTTGCCC	0.438000													7	19					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601075	232601075	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:232601075C>A	ENST00000366630.1	-	8	2689	c.2331G>T	c.(2329-2331)cgG>cgT	p.R777R	SIPA1L2_ENST00000262861.4_Silent_p.R777R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	777	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAAGGAAGTCCCGGAACACGG	0.453000													77	25					5.82419e-33	5.95976e-33	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183099206	183099206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:183099206G>A	ENST00000435564.1	-	4	618	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H124Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H36Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.H124Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.H106Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H140Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.H140Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	140					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCAACCATATGATATGTTTTT	0.264000													51	57					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259471	151259471	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151259471C>T	ENST00000368879.2	+	2	802	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTCCTAGCCCAACAAGGC	0.642000													20	75					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17950353	17950353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17950353C>T	ENST00000458235.1	-	10	1473	c.1374G>A	c.(1372-1374)tgG>tgA	p.W458*	JAK3_ENST00000527670.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000534444.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	458	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCCCCCCATCCCAGCAGGTTG	0.627000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								3	7					0	0	1	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177637261	177637261	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:177637261G>A	ENST00000358344.3	+	7	1173	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	HNRNPAB_ENST00000506339.1_Missense_Mutation_p.G301S|HNRNPAB_ENST00000506259.1_Intron|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.G306S|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000355836.5_Intron|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000515193.1_Intron	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	306	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						CTACGGCCCCGGCTACGACTA	0.642000													19	30					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54175661	54175661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:54175661G>A	ENST00000404125.1	-	3	452	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTCTTGAAAGAAGTTCCTTT	0.348000													32	84					0	0	1	0	0
SRPRB	58477	broad.mit.edu	37	3	133538558	133538558	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:133538558T>C	ENST00000466490.2	+	8	1049	c.764T>C	c.(763-765)gTg>gCg	p.V255A		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	255						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGAGGGGACGTGGGCTCTGCT	0.527000													16	25					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51617306	51617306	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:51617306G>A	ENST00000522124.1	+	16	1846	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	SNTG1_ENST00000517473.1_Silent_p.R395R|SNTG1_ENST00000276467.5_Silent_p.R395R|SNTG1_ENST00000518864.1_Silent_p.R395R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	395					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGTAGAACGGATACAGGTGA	0.493000													20	24					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500321	48500321	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:48500321C>T	ENST00000396577.3	+	2	620	c.405C>T	c.(403-405)caC>caT	p.H135H	SLC12A1_ENST00000558405.1_Silent_p.H135H|SLC12A1_ENST00000561031.1_Silent_p.H135H|SLC12A1_ENST00000330289.6_Silent_p.H135H|SLC12A1_ENST00000380993.3_Silent_p.H135H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	135					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGAGATTCACGAGCAACTCG	0.468000													37	51					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371481	55371481	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55371481G>A	ENST00000302231.4	-	1	393	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCTTACAGATGGCCACATAGC	0.458000													26	36					0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154898901	154898901	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154898901G>A	ENST00000368467.3	-	4	676	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	124					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCGTCACGGCCCCATAGGC	0.612000													16	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598474	179598474	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179598474G>A	ENST00000589042.1	-	53	15866	c.15642C>T	c.(15640-15642)atC>atT	p.I5214I	TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000591111.1_Silent_p.I4897I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4897	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCATTTTGATTTTTCCGT	0.453000													59	94					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77239592	77239592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77239592C>T	ENST00000554237.1	+	4	1061	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	VASH1_ENST00000167106.4_Intron|VASH1_ENST00000556038.1_Intron			Q7L8A9	VASH1_HUMAN	vasohibin 1	0					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GTCCGGGcttctctgggcctc	0.577000													9	25					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30736230	30736230	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30736230G>A	ENST00000439242.1	-	9	1266	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	SF3A1_ENST00000215793.7_Missense_Mutation_p.R444C	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	444					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGGATGGAGCGATCCCGCTGC	0.572000													8	10					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213515	21213515	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21213515T>A	ENST00000574002.1	-	12	1679	c.1197A>T	c.(1195-1197)ggA>ggT	p.G399G	ZP2_ENST00000219593.4_Silent_p.G399G|ZP2_ENST00000574091.1_Silent_p.G399G|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	399	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGATGAGTTTCCCACCCTCA	0.527000													19	19					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22206876	22206876	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22206876G>A	ENST00000374695.3	-	16	2254	c.2175C>T	c.(2173-2175)gcC>gcT	p.A725A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	725	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCACACTGTGGGCACGGCCAT	0.617000													17	15					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100331945	100331945	+	Silent	SNP	C	C	T	rs139395720	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100331945C>T	ENST00000262233.6	+	3	484	c.345C>T	c.(343-345)tcC>tcT	p.S115S	EML1_ENST00000334192.4_Silent_p.S115S|EML1_ENST00000327921.9_Silent_p.S84S|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	115						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)				CATCCCCCTCCGGGGTCAGGA	0.493000													23	17					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152079984	152079984	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152079984G>A	ENST00000368804.1	-	2	5708	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1903					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTCTTGGGATTTTATCT	0.577000													51	49					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585975	120585975	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120585975G>A	ENST00000300648.6	-	37	4734	c.4722C>T	c.(4720-4722)atC>atT	p.I1574I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1574					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTACCCAGGATCTCCGGGT	0.592000													7	35					0	0	1	0	0
IFNL2	282616	broad.mit.edu	37	19	39760639	39760639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39760639G>A	ENST00000331982.5	+	6	644	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_172138.1	NP_742150.1			interferon, lambda 2																		TGCCAGTGGGGACCTGTGTGT	0.517000													3	10					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43159892	43159892	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:43159892C>T	ENST00000522175.2	+	0	748							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S295Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAAACAACTCTTCTGGAAAT	0.338000													41	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063304	9063304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9063304C>T	ENST00000397910.4	-	3	24345	c.24142G>A	c.(24142-24144)Gag>Aag	p.E8048K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8050	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGTTTTCTCTGTATCTGTG	0.463000													26	23					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648264	38648264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38648264C>T	ENST00000413689.1	-	9	1229	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	SCN5A_ENST00000414099.2_Missense_Mutation_p.E346K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E346K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E346K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E346K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E346K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E346K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E346K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E346K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E346K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	346					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCGGGGTTCTCGCCTGCCTTT	0.602000													28	48					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284409	52284409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52284409G>T	ENST00000301190.6	+	5	906	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A33S|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A102S	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	102										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGCAAGACGGCCCTGGAATG	0.622000													12	14					0.0167234	0.0167434	1	1	0
TLN2	83660	broad.mit.edu	37	15	63068995	63068995	+	Silent	SNP	C	C	T	rs145072613	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:63068995C>T	ENST00000561311.1	+	42	5630	c.5400C>T	c.(5398-5400)gcC>gcT	p.A1800A	TLN2_ENST00000472902.1_Silent_p.A193A|TLN2_ENST00000306829.6_Silent_p.A1800A			Q9Y4G6	TLN2_HUMAN	talin 2	1800					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACAGAGGCCGCCCAGTTGA	0.537000													8	30					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845342	101845342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:101845342C>T	ENST00000360264.3	+	18	2818	c.2798C>T	c.(2797-2799)cCc>cTc	p.P933L	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P866L|CUX1_ENST00000292535.7_Missense_Mutation_p.P922L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P900L|CUX1_ENST00000546411.2_Missense_Mutation_p.P820L|CUX1_ENST00000556210.1_Missense_Mutation_p.P764L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	922					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGTCCAAGCCCACCAAGCCC	0.637000													40	91					0	0	1	0	0
CACUL1	143384	broad.mit.edu	37	10	120450799	120450799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:120450799G>A	ENST00000369151.3	-	7	1486	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		TTCTGTATAAGTTCTCTTTGA	0.383000													73	87					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978939	11978939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11978939G>A	ENST00000304030.2	+	3	1255	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	ZNF439_ENST00000455282.1_Missense_Mutation_p.R216K|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCTGGAGAAAGACCTTATGAA	0.373000													6	59					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611073	139611073	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139611073G>A	ENST00000303045.6	-	61	4700	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	COL22A1_ENST00000435777.1_Silent_p.I1398I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1418	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGGCCTGGGATTCCAGGGT	0.592000										HNSCC(7;0.00092)			26	46					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096524	167096524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167096524C>T	ENST00000361200.2	+	6	2322	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S719F|DUSP27_ENST00000443333.1_Missense_Mutation_p.S719F			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	719					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACACCATTTCCATTGCCAGT	0.547000													15	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413404	179413404	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179413404C>T	ENST00000589042.1	-	339	93173	c.92949G>A	c.(92947-92949)gtG>gtA	p.V30983V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.V28415V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.V29342V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.V22043V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V22110V|TTN_ENST00000460472.2_Silent_p.V21918V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29342	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGTTTTCCACAGTGAGGG	0.453000													53	81					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947317	150947317	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150947317G>A	ENST00000261800.5	-	1	1188	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	392	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATACTGCAGGTTGGGGAAGG	0.498000													18	51					0	0	1	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293316	119293316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:119293316C>T	ENST00000371388.3	+	2	665	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	159						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						CGAGCAGTTCCCCAGTGAGTT	0.652000													15	19					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45410265	45410265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:45410265G>A	ENST00000267803.4	-	10	1393	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C|DUOXA2_ENST00000323030.5_3'UTR|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTCCTGGGGCGATCTGTAAAT	0.552000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535877	145535877	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145535877C>T	ENST00000528838.1	+	9	1249	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	HSF1_ENST00000400780.4_Silent_p.S298S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	363						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGCCTCCCTCCCCCCCGCCCA	0.701000													8	14					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102530646	102530646	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:102530646C>T	ENST00000321521.9	+	29	4049	c.3476C>T	c.(3475-3477)tCt>tTt	p.S1159F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1159F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1180F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1180					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						AAAAAAGTATCTTTAAATACG	0.368000													12	16					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56912075	56912075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:56912075G>A	ENST00000520220.2	+	12	1514	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	LYN_ENST00000519728.1_Missense_Mutation_p.E435K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	435	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CCTCCTATACGAAATTGTCAC	0.403000													28	38					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128775	68128775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:68128775C>T	ENST00000585558.1	+	4	1040	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	KCNJ16_ENST00000586462.1_Missense_Mutation_p.R222C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R183C			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	183					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCAAACCATTCGTTTCAGCTA	0.463000													24	64					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282986	69282986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69282986G>A	ENST00000338352.2	+	1	646	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	204	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						ACGACTTCATGATCTACTGCG	0.622000													23	61					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834619	4834619	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:4834619G>A	ENST00000378191.4	+	5	1676		c.e5+1		AJAP1_ENST00000378190.3_Splice_Site	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1						cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGTTTCACGGTAGGTACCTC	0.537000													9	32					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53724084	53724084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53724084G>A	ENST00000306052.6	-	14	2217	c.2116C>T	c.(2116-2118)Cct>Tct	p.P706S	LRP8_ENST00000354412.3_Missense_Mutation_p.P577S|LRP8_ENST00000371454.2_Missense_Mutation_p.P706S|LRP8_ENST00000465675.1_Missense_Mutation_p.P259S|LRP8_ENST00000347547.2_Missense_Mutation_p.P536S|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	706					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAGGAGCAGGAAGGCACAGG	0.557000													32	56					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132549425	132549425	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132549425C>T	ENST00000333577.4	+	49	8764	c.8655C>T	c.(8653-8655)gcC>gcT	p.A2885A	EP400_ENST00000389561.2_Silent_p.A2849A|EP400_ENST00000330386.6_Silent_p.A2768A|EP400_ENST00000389562.2_Silent_p.A2848A|EP400_ENST00000332482.4_Silent_p.A2812A			Q96L91	EP400_HUMAN	E1A binding protein p400	2885					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCAGGTGGCCCGGCTCGTAA	0.592000													6	18					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749651	79749651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:79749651C>T	ENST00000305428.3	+	2	1237	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	388						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATAGAAATCCCTCCGAGGA	0.512000													30	50					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34340689	34340689	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:34340689C>T	ENST00000257209.4	+	23	4141	c.4019C>T	c.(4018-4020)tCc>tTc	p.S1340F	FHOD3_ENST00000359247.4_Missense_Mutation_p.S1323F|FHOD3_ENST00000591635.1_Missense_Mutation_p.S536F|FHOD3_ENST00000445677.1_Missense_Mutation_p.S1302F|FHOD3_ENST00000592128.1_Missense_Mutation_p.S319F|FHOD3_ENST00000590592.1_Missense_Mutation_p.S1523F	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1323					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCGTCCCCCTCCGTGGAGGAC	0.672000													16	24					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183239	18183239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:18183239C>T	ENST00000380033.4	-	14	2422	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	764	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTTCTGACGTCATGTCTAAGG	0.547000													104	140					0	0	1	0	0
TMEM88	92162	broad.mit.edu	37	17	7758820	7758820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7758820G>A	ENST00000301599.6	+	2	278	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	90						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				CGGTTTCACGGCCCTACTGGT	0.687000													22	41					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85627420	85627420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:85627420C>T	ENST00000376447.3	-	5	1032	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	258					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTGATTGTTCTTCGAGCTGA	0.318000													13	2					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247686	247686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:247686C>T	ENST00000538872.1	+	4	1275	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	IQSEC3_ENST00000382841.2_Missense_Mutation_p.S83F|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S386F|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	386					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGCTCGCCCTCCCTGCCGCCC	0.701000													5	3					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068477	103068477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:103068477C>T	ENST00000264260.2	+	12	2225	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P404S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	546	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAATCAGTTCCTCCCAATTC	0.453000													60	84					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137677851	137677851	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:137677851G>A	ENST00000371817.3	+	31	3017	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	868	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAAAACTCGGAGTCCCAGGG	0.567000													14	5					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182995	120182995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120182995C>T	ENST00000328078.1	+	1	1534	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	486					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAACTATTCCCATTGTACCC	0.448000													56	85					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20209360	20209360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:20209360G>A	ENST00000395530.2	+	12	3047	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	SPECC1_ENST00000261503.5_Missense_Mutation_p.E1028K|SPECC1_ENST00000536879.1_Missense_Mutation_p.E368K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.E1028K	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1028						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTTGGCATTTGAAGCGGCTGA	0.358000													30	46					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873700	91873700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:91873700C>T	ENST00000373094.1	+	7	4650	c.3805C>T	c.(3805-3807)Cgt>Tgt	p.R1269C	PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1259C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1261C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1251C|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1269					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCCTCCATCGTAGTCAGGC	0.552000													105	161					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38462076	38462076	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38462076G>A	ENST00000356264.2	-	16	1432	c.1215_splice	c.e16-1	p.P406_splice	AMPH_ENST00000325590.5_Splice_Site_p.P406_splice|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Splice_Site_p.P406_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTATCCTGGGGCTGAAAATC	0.348000													54	83					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141313408	141313408	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:141313408T>C	ENST00000325617.5	-	13	2056	c.1616A>G	c.(1615-1617)gAa>gGa	p.E539G	CLGN_ENST00000537281.1_Missense_Mutation_p.E539G|CLGN_ENST00000414773.1_Missense_Mutation_p.E539G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	539					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTGCTTTTTTTCCTCTTCCAG	0.373000													61	73					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443499	5443499	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5443499G>A	ENST00000300778.4	+	1	159	c.69G>A	c.(67-69)gaG>gaA	p.E23E	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATTTGAGGCCTCCCACA	0.507000													44	87					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965568	22965568	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22965568G>A	ENST00000374642.3	+	3	610	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	C1QA_ENST00000402322.1_Missense_Mutation_p.V136I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	136	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTCGACACGGTCATCACCAA	0.602000													10	34					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89209496	89209496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:89209496G>A	ENST00000286614.6	-	2	453	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	58					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GACATTCTGGGGTCAGTCGGT	0.428000													18	39					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699661	136699661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:136699661C>T	ENST00000445907.2	+	3	577	c.49C>T	c.(49-51)Cct>Tct	p.P17S	AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P17S|CHRM2_ENST00000397608.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P17S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P17S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	17					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTTACAAGTCCTTATAAGAC	0.393000													34	47					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716512	11716512	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:11716512A>G	ENST00000381486.2	+	5	788	c.488A>G	c.(487-489)aAa>aGa	p.K163R	GREB1_ENST00000263834.5_Missense_Mutation_p.K163R|GREB1_ENST00000389825.3_Missense_Mutation_p.K53R|GREB1_ENST00000234142.5_Missense_Mutation_p.K163R|GREB1_ENST00000381483.2_Missense_Mutation_p.K163R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	163						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGTGGAAAGAAAGGCTTCTGT	0.383000													44	104					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247519	55247519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55247519C>T	ENST00000291860.1	+	8	1207	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	397						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AATCACTCGCCCTTCTCAGAG	0.507000													62	18					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480701	59480701	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59480701G>A	ENST00000307552.2	-	1	636	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGCTAAGGACGATGAAGCTGA	0.512000													35	58					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159281	152159281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152159281G>A	ENST00000439251.1	-	2	1300	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	PNMA5_ENST00000452693.1_Missense_Mutation_p.R288C|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288C|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTCAGACGAATCATGTCT	0.567000													55	69					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101969893	101969893	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101969893C>T	ENST00000543253.1	+	5	1015	c.96C>T	c.(94-96)gtC>gtT	p.V32V	GPRASP2_ENST00000535209.1_Silent_p.V32V|GPRASP2_ENST00000332262.5_Silent_p.V32V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAATGATGTCCCTCTGGTGG	0.572000													78	96					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563820	219563820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219563820C>T	ENST00000295709.3	+	26	3832	c.3553C>T	c.(3553-3555)Cct>Tct	p.P1185S	STK36_ENST00000392105.3_Missense_Mutation_p.P1164S|STK36_ENST00000392106.2_Missense_Mutation_p.P1164S|STK36_ENST00000440309.1_Missense_Mutation_p.P1185S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1185			P -> S (in an ovarian endometrioid sample; somatic mutation).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.P1185S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCAGGCTGGTCCTCTGGGACC	0.602000													20	12					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978452	247978452	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247978452C>T	ENST00000357627.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGTGCAATTTCTCTTATTAAA	0.383000													44	19					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208315720	208315720	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:208315720G>A	ENST00000367033.3	-	4	2217	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	487	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AATGGAGAAGGCCATGTCCCG	0.532000													67	15					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7667304	7667304	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7667304G>A	ENST00000572933.1	+	19	4594	c.3134G>A	c.(3133-3135)gGg>gAg	p.G1045E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G1045E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1045	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCTGCTGGGCGCCTCCTG	0.622000													26	48					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028821	59028821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59028821C>T	ENST00000594051.1	-	2	700	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ZBTB45_ENST00000354590.3_Missense_Mutation_p.V74M|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V74M			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	74	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCGGGCACCACCGGAGGCACA	0.662000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	41					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126011789	126011789	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:126011789C>T	ENST00000265896.5	+	1	1042	c.144C>T	c.(142-144)caC>caT	p.H48H	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	48					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GCTGTCGCCACCGAAACGGGG	0.612000													7	24					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24995058	24995058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995058C>T	ENST00000261192.7	-	7	1301	c.775G>A	c.(775-777)Gga>Aga	p.G259R	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271R|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258R|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222R|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198R	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	259					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TTCATAGTTCCCACTTCAGTG	0.423000													5	24					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701074	169701074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169701074G>A	ENST00000333360.7	-	4	570	c.431C>T	c.(430-432)aCc>aTc	p.T144I	SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367777.1_Missense_Mutation_p.T144I|SELE_ENST00000367780.4_Missense_Mutation_p.T144I|SELE_ENST00000367781.4_Missense_Mutation_p.T144I|SELE_ENST00000367774.1_Missense_Mutation_p.T144I|SELE_ENST00000367776.1_Missense_Mutation_p.T144I|SELE_ENST00000367779.4_Missense_Mutation_p.T144I|SELE_ENST00000367782.4_Missense_Mutation_p.T144I|SELE_ENST00000367775.1_Missense_Mutation_p.T144I|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	144	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGATGTATTGGTACAGGCAGC	0.443000													14	20					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50718994	50718994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:50718994C>T	ENST00000008391.3	+	7	1324	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	366	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGACCCACTCCAATTCTAGA	0.373000													5	48					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15938100	15938100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:15938100C>T	ENST00000268712.3	-	45	7371	c.7114G>A	c.(7114-7116)Gaa>Aaa	p.E2372K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E956K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2269K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2372	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)		GGCCTGTCTTCCCAGGCCCAC	0.458000													39	59					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955873	55955873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:55955873C>T	ENST00000263923.4	-	24	3584	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1097	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATATTTCCCACAGCAAA	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			24	76					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269170	63269170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:63269170G>A	ENST00000322893.7	-	9	1967	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.Q509*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.Q567*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	567					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGAATGGTTTGGAACTCTACC	0.507000													23	49					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563191	75563191	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:75563191G>A	ENST00000336257.3	-	3	2486	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.I370I	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	364					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACGCGCAGGATCTTAGTGA	0.657000													22	48					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100452246	100452246	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100452246C>T	ENST00000354161.3	+	3	311	c.186C>T	c.(184-186)ttC>ttT	p.F62F	SLC12A9_ENST00000428758.1_Silent_p.F62F|SLC12A9_ENST00000540482.1_Silent_p.F62F|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000415287.1_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	62						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAGGGTTCGTGGTGGGTC	0.607000													37	56					0	0	1	0	0
CCDC43	124808	broad.mit.edu	37	17	42756379	42756379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42756379G>A	ENST00000315286.8	-	5	528	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	CCDC43_ENST00000457422.2_Missense_Mutation_p.P154L|CCDC43_ENST00000588210.1_Missense_Mutation_p.L177F|C17orf104_ENST00000588805.1_3'UTR	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	174				L -> F (in Ref. 1; BAB71162).						lung(2)	2		Prostate(33;0.0322)				CGGGCATTAAGGACATCTTCC	0.488000													12	24					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084505	58084505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58084505G>A	ENST00000196489.3	-	4	989	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGAACAAGGGAGCACTCACA	0.468000													66	79					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35724377	35724377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:35724377C>T	ENST00000187397.4	+	4	623	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ARPP21_ENST00000458225.1_Missense_Mutation_p.S56F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S56F|ARPP21_ENST00000438071.1_Missense_Mutation_p.S56F|ARPP21_ENST00000432682.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396482.2_Missense_Mutation_p.S56F|ARPP21_ENST00000412048.1_Missense_Mutation_p.S56F|ARPP21_ENST00000428373.1_Missense_Mutation_p.S56F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S56F|ARPP21_ENST00000441454.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396481.2_Missense_Mutation_p.S56F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S56F|ARPP21_ENST00000474696.1_Missense_Mutation_p.S56F|ARPP21_ENST00000427542.1_Missense_Mutation_p.S56F|ARPP21_ENST00000436702.1_Missense_Mutation_p.S56F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	56						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAAGAAAATCCAAGGTAGGG	0.328000													14	43					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938499	38938499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38938499C>A	ENST00000302328.3	-	14	2438	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	SCN11A_ENST00000444237.2_Missense_Mutation_p.R747L|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTGCCAGTGCCGTAAACATGA	0.493000													19	35					4.96729e-08	5.00323e-08	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28149713	28149713	+	Silent	SNP	C	C	T	rs145155399	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28149713C>T	ENST00000305242.5	-	19	2954	c.2862G>A	c.(2860-2862)agG>agA	p.R954R	ARMC4_ENST00000545014.1_Silent_p.R479R|ARMC4_ENST00000537576.1_Silent_p.R646R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	954							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACTCTATTCCTGCCCCACA	0.463000													24	39					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229624	140229624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140229624G>A	ENST00000378122.3	+	1	2268	c.1544G>A	c.(1543-1545)gGc>gAc	p.G515D	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G515D|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGCGGCAAGGTGTAC	0.692000													62	104					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3149531	3149531	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3149531G>A	ENST00000359864.2	+	13	1382	c.1191_splice	c.e13-1	p.V398_splice	TEAD4_ENST00000358409.2_Splice_Site_p.V355_splice|TEAD4_ENST00000397122.2_Splice_Site_p.V269_splice	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	398					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCCCACAGGTGGTCACCAA	0.577000													18	30					0	0	1	0	0
C9orf41	138199	broad.mit.edu	37	9	77631274	77631274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77631274C>T	ENST00000376834.3	-	3	652	c.500G>A	c.(499-501)aGa>aAa	p.R167K	C9orf41_ENST00000376837.3_Missense_Mutation_p.R167K	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	167										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ACTCCAGTCTCTCACAAACTG	0.358000													93	32					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118809645	118809645	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:118809645C>T	ENST00000504811.1	+	4	414	c.230C>T	c.(229-231)tCc>tTc	p.S77F	HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S34F|HSD17B4_ENST00000256216.6_Missense_Mutation_p.S52F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S28F	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	52	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGTAAAGGCTCCTTAGCTGCT	0.363000													7	19					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935882	57935882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:57935882C>T	ENST00000358697.4	-	1	1185	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	325	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CGCAGTTTATCGTGCGACTGC	0.622000													18	24					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46264115	46264115	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:46264115A>T	ENST00000510861.1	-	9	1060	c.887T>A	c.(886-888)cTa>cAa	p.L296Q	GABRA2_ENST00000356504.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000381620.4_Missense_Mutation_p.L296Q|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241Q|GABRA2_ENST00000515082.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	296					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGATGCTTAGAGTTGTCAT	0.418000													12	42					0	0	1	0	0
URAD	646625	broad.mit.edu	37	13	28562674	28562674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:28562674G>A	ENST00000332715.4	-	1	100	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_001105577.1	NP_001099047.1			ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase																		TGGCCGCTGGGACCAAACAGC	0.468000													24	43					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718777	140718777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140718777G>A	ENST00000394576.2	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572000													28	69					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15190562	15190562	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:15190562G>A	ENST00000355694.2	-	11	1131	c.897C>T	c.(895-897)tcC>tcT	p.S299S	TTC39B_ENST00000512701.1_Silent_p.S365S|TTC39B_ENST00000380850.4_Silent_p.S365S|TTC39B_ENST00000507285.1_Silent_p.S200S|TTC39B_ENST00000297615.5_Silent_p.S296S|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507993.1_Silent_p.S200S	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	299							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAAGTATTAGGGAGATGTAAG	0.453000													19	11					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5442963	5442963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5442963G>A	ENST00000380419.3	-	2	128	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	31					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCATTTGGCTGGATTCCATGT	0.473000													50	103					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54137815	54137815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54137815G>A	ENST00000376650.1	+	2	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433000													62	85					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171248046	171248046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:171248046C>T	ENST00000334231.6	+	15	1621	c.1621C>T	c.(1621-1623)Cat>Tat	p.H541Y	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.H532Y|MYO3B_ENST00000408978.4_Missense_Mutation_p.H532Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	532	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAAAAATTTTCATATATTTTA	0.348000													6	21					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662488	40662488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:40662488G>A	ENST00000454349.2	+	5	2465	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E752K|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	752					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TTGGGGGGAGGAAGTCGATCA	0.517000													9	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489447	179489447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179489447C>A	ENST00000589042.1	-	242	44784	c.44560G>T	c.(44560-44562)Gaa>Taa	p.E14854*	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E12286*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E13213*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5914*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5981*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5789*|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13213	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTGAATTCAACTGGGGGT	0.483000													23	32					1.39806e-14	1.42016e-14	1	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51631689	51631689	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51631689G>A	ENST00000440804.3	+	6	1192	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	SIGLEC9_ENST00000250360.3_Silent_p.K375K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	375					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTGCAGGAAGAAATCGGCAA	0.577000													13	40					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373416	56373416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56373416C>T	ENST00000301295.6	+	5	2499	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q618*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q693*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	693							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCTTTTATCAGCCAGACTT	0.433000													36	66					0	0	1	0	0
HOXB4	3214	broad.mit.edu	37	17	46655603	46655603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46655603C>T	ENST00000332503.5	-	1	1870	c.79G>A	c.(79-81)Gat>Aat	p.D27N	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	27	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGTAGGTAATCGCTCTGTGAA	0.582000													20	20					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701600	16701600	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:16701600G>A	ENST00000513610.1	-	25	3358	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	MYO10_ENST00000515803.1_Silent_p.S307S|MYO10_ENST00000505695.1_Silent_p.S307S|MYO10_ENST00000427430.2_Silent_p.S325S|MYO10_ENST00000274203.9_Silent_p.S325S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	968					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGCTCGCTGGAAAATTCGC	0.607000													16	32					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137317	40137317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40137317G>A	ENST00000278198.2	-	2	2489	c.526C>T	c.(526-528)Cga>Tga	p.R176*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R176*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGTCTAGTCGGCGCAAAGAA	0.423000													34	47					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670708	134670708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:134670708C>T	ENST00000398015.3	+	3	989	c.619C>T	c.(619-621)Cca>Tca	p.P207S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	207	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCAGTGTTTCCAGAGACTAT	0.488000													71	125					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668207	53668207	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53668207T>C	ENST00000600412.1	-	2	1456	c.1341A>G	c.(1339-1341)aaA>aaG	p.K447K	ZNF665_ENST00000396424.3_Silent_p.K512K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACTTGTAAGGTTTTTCTCCAG	0.378000													49	73					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20225107	20225107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:20225107G>A	ENST00000412997.1	-	3	683	c.332C>T	c.(331-333)cCt>cTt	p.P111L	SGOL1_ENST00000383774.1_Missense_Mutation_p.P111L|SGOL1_ENST00000425061.1_Missense_Mutation_p.P111L|SGOL1_ENST00000452020.1_Missense_Mutation_p.P111L|SGOL1_ENST00000443724.1_Missense_Mutation_p.P111L|SGOL1_ENST00000412868.1_Missense_Mutation_p.P111L|SGOL1_ENST00000263753.4_Missense_Mutation_p.P111L|SGOL1_ENST00000442720.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Missense_Mutation_p.P111L|SGOL1_ENST00000417364.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000437051.1_Missense_Mutation_p.P111L|SGOL1_ENST00000419233.2_Missense_Mutation_p.P111L|SGOL1_ENST00000306698.2_Missense_Mutation_p.P111L|SGOL1_ENST00000421451.1_Missense_Mutation_p.P111L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	111	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TACCTGAGCAGGTTCTACTGT	0.328000													32	50					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40657438	40657438	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40657438G>A	ENST00000267889.3	+	6	897	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	270					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AGCCCCTGGAGGACAGAAGGC	0.607000													22	45					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93088609	93088609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93088609G>A	ENST00000298050.3	+	3	202	c.102G>A	c.(100-102)atG>atA	p.M34I	CCDC67_ENST00000527307.1_Missense_Mutation_p.M34I|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	34										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ACAAGAAAATGGATTGGGAAA	0.403000													13	36					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7777003	7777003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:7777003G>A	ENST00000358415.4	+	15	2072	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D625N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	636					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGAGGCTGGGGATGAGCGCAT	0.607000													16	31					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57415395	57415395	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:57415395C>G	ENST00000543257.1	-	7	1107	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	C8B_ENST00000535057.1_Missense_Mutation_p.E171Q|C8B_ENST00000371237.4_Missense_Mutation_p.E233Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	233	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GATTCATACTCTTTTAATATG	0.328000													10	13					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349586	70349586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70349586C>T	ENST00000333646.6	+	27	3947	c.3748C>T	c.(3748-3750)Cca>Tca	p.P1250S	MED12_ENST00000374102.1_Missense_Mutation_p.P1250S|MED12_ENST00000374080.3_Missense_Mutation_p.P1250S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1250					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAAGAACTTCCAGAGGAGGA	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138819939	138819939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:138819939G>A	ENST00000359686.2	-	29	3412	c.3314C>T	c.(3313-3315)tCc>tTc	p.S1105F	ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000370543.1_Intron|ATP11C_ENST00000460773.1_Intron|ATP11C_ENST00000327569.3_Intron|ATP11C_ENST00000361648.2_Intron			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	0					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCAGAAGAGGAAATTAAGTG	0.373000													4	10					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886943	150886943	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150886943C>A	ENST00000261800.5	-	22	12301	c.12289G>T	c.(12289-12291)Gcc>Tcc	p.A4097S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4097					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGCATGGCTTGGGTGTCA	0.577000													37	45					1.60099e-16	1.62927e-16	1	1	0
ROR1	4919	broad.mit.edu	37	1	64608210	64608210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:64608210C>T	ENST00000371079.1	+	7	1426	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	ROR1_ENST00000371080.1_Missense_Mutation_p.R351C|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	351	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.R351C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACCGCCCTTCGTTTCCCAGA	0.547000													37	27					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39763621	39763621	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:39763621G>A	ENST00000395670.3	-	3	779	c.360C>T	c.(358-360)caC>caT	p.H120H	KIF21A_ENST00000541463.2_Silent_p.H120H|KIF21A_ENST00000361418.5_Silent_p.H120H|KIF21A_ENST00000361961.3_Silent_p.H120H|KIF21A_ENST00000544797.2_Silent_p.H120H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	120	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTAAAAAGGTGTTTAACAG	0.348000													19	30					0	0	1	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75044200	75044200	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75044200C>T	ENST00000393633.2	+	0	3464																				large_intestine(1)|lung(1)	2						GAAGCATTTTCTCCTGGACTC	0.542000													16	38					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69343912	69343912	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:69343912G>T	ENST00000193403.6	-	20	2790	c.2407C>A	c.(2407-2409)Cgc>Agc	p.R803S	ACTN1_ENST00000438964.2_Missense_Mutation_p.R798S|ACTN1_ENST00000538545.2_Missense_Mutation_p.R798S|ACTN1_ENST00000376839.3_Missense_Mutation_p.R733S|ACTN1_ENST00000394419.4_Missense_Mutation_p.R825S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	803	EF-hand 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCCCCAGGCGGTTGGGGTCC	0.557000													19	47					3.62473e-10	3.65979e-10	1	1	0
PPIF	10105	broad.mit.edu	37	10	81113532	81113532	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81113532T>A	ENST00000225174.3	+	6	629	c.558T>A	c.(556-558)tcT>tcA	p.S186S	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	186	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	AAATAGAATCTTTCGGCTCTA	0.537000													35	39					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168896	113168896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113168896C>T	ENST00000401783.2	-	38	9320	c.8984G>A	c.(8983-8985)tGg>tAg	p.W2995*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2972*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W921*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2995	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCACTCCAGGAGCCATT	0.473000													25	17					0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28004519	28004519	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28004519T>G	ENST00000302188.3	-	8	1684	c.932A>C	c.(931-933)tAc>tCc	p.Y311S	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	311					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TTTGTAAGGGTAAGATGACTG	0.433000													45	52					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31120611	31120611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31120611C>T	ENST00000394951.1	+	3	690	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	BCKDK_ENST00000287507.3_Missense_Mutation_p.P23S|BCKDK_ENST00000219794.6_Missense_Mutation_p.P23S|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Missense_Mutation_p.P23S			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	23					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCTCCTGGGACCCGCACTCGC	0.692000													8	11					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17597622	17597622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17597622G>A	ENST00000252595.7	+	2	515	c.418G>A	c.(418-420)Gag>Aag	p.E140K	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E140K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	140					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCCGGCCGGAGTTCGTGGG	0.711000													6	9					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320798	320798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:320798C>T	ENST00000397770.3	-	14	1029	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	RGS11_ENST00000359740.5_Missense_Mutation_p.E327K|RGS11_ENST00000316163.5_Missense_Mutation_p.E317K|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	338	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TATCGAAGCTCCTCACATGCC	0.657000													9	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614852	179614852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179614852G>A	ENST00000360870.5	-	46	12497	c.12275C>T	c.(12274-12276)cCc>cTc	p.P4092L	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3468							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCCAGAGGGAGGAACTGG	0.423000													27	49					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416011	30416011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30416011C>T	ENST00000333027.3	+	17	2691	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	MTMR3_ENST00000401950.2_Missense_Mutation_p.S788F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S788F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S788F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S652F	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	788					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATTCCCTGGAGGTC	0.532000													38	54					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139297	158139297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:158139297G>A	ENST00000313708.6	-	14	1696	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P441S|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	472	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding	p.P472T(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGTGCTCGGCACGTACCCG	0.597000			T	HMGA2	lipoma								8	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499246	179499246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179499246C>T	ENST00000589042.1	-	230	42486	c.42262G>A	c.(42262-42264)Gga>Aga	p.G14088R	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11520R|TTN_ENST00000591111.1_Missense_Mutation_p.G12447R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5148R|TTN_ENST00000342175.6_Missense_Mutation_p.G5215R|TTN_ENST00000460472.2_Missense_Mutation_p.G5023R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12447	Fibronectin type-III 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATCAGGTCCTTTGGACCAT	0.408000													39	59					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381961	57381961	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57381961C>T	ENST00000403558.1	+	7	1905	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	SERPING1_ENST00000278407.4_Silent_p.V470V|SERPING1_ENST00000378324.2_Silent_p.V418V|SERPING1_ENST00000340687.6_Silent_p.V433V|SERPING1_ENST00000378323.4_Silent_p.V475V	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	470					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCTGCTGGTCTTTGAAGTGC	0.612000													30	32					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19765410	19765410	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19765410G>A	ENST00000357324.6	-	13	1781	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.L467L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	585					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTCACCCACGAGGGTGCCGT	0.662000													21	35					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566317	102566317	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102566317C>T	ENST00000370296.2	+	7	1366	c.816C>T	c.(814-816)tcC>tcT	p.S272S	PAX2_ENST00000355243.3_Silent_p.S249S|PAX2_ENST00000556085.1_Silent_p.S248S|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Silent_p.S249S|PAX2_ENST00000428433.1_Silent_p.S272S			Q02962	PAX2_HUMAN	paired box 2	272					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCGTCCTTCCTACCCTGACG	0.552000													81	155					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408142	10408142	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10408142T>C	ENST00000226207.5	-	22	2770	c.2676A>G	c.(2674-2676)caA>caG	p.Q892Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	892						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAACCTGGAGTTGCAAGTCAT	0.408000													15	25					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058674	100058674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:100058674C>T	ENST00000394140.3	+	3	233	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	48	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTTTAATTCTCCATATGGAGC	0.373000													7	26					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78899197	78899197	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78899197G>A	ENST00000306801.3	+	24	3198	c.2836G>A	c.(2836-2838)Gga>Aga	p.G946R	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788R	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	946					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGATGCTGCTGGACACAAAAG	0.582000													19	31					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994744	39994744	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39994744G>A	ENST00000205143.4	+	5	693	c.686G>A	c.(685-687)gGc>gAc	p.G229D	DLL3_ENST00000356433.5_Missense_Mutation_p.G229D	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	229	EGF-like 1.				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)			CCTGAGCATGGCTTCTGTGAA	0.642000													18	40					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860791	13860791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:13860791C>T	ENST00000285018.4	-	4	1004	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	234					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGAACGGCCTCGTTGTACTTG	0.607000													43	38					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476458	41476458	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41476458C>T	ENST00000314992.5	-	10	1406	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	EXD1_ENST00000458580.2_Missense_Mutation_p.D464N	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACTGGAATCCTCACTGGTT	0.418000													56	104					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938047	152938047	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152938047C>T	ENST00000393831.2	-	3	608	c.174G>A	c.(172-174)gtG>gtA	p.V58V	PNCK_ENST00000447676.2_Silent_p.V141V|PNCK_ENST00000370150.1_Silent_p.V58V|PNCK_ENST00000340888.3_Silent_p.V58V|PNCK_ENST00000370145.4_Silent_p.V75V|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Silent_p.V58V	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	58	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGTTCTCCACCAGGGCCT	0.682000													57	71					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53184987	53184987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:53184987G>A	ENST00000445930.2	+	9	680	c.674G>A	c.(673-675)aGt>aAt	p.S225N	PSMC6_ENST00000606149.1_Missense_Mutation_p.S211N			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATTGGTGAAAGTGCTCGTTTG	0.294000													35	43					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96055202	96055202	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:96055202C>T	ENST00000297954.4	+	23	5566	c.5566C>T	c.(5566-5568)Ccg>Tcg	p.P1856S	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P1431S|WNK2_ENST00000395477.2_Missense_Mutation_p.P1819S|WNK2_ENST00000349097.3_Missense_Mutation_p.P1468S|WNK2_ENST00000356055.3_Missense_Mutation_p.P183S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1856					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCGAGACCCCCGGTGCAGAA	0.726000													13	2					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284052	43284052	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:43284052C>T	ENST00000511537.1	-	0	883					NR_033868.1																						TCCAGGTCTTCCTCTTCTGTC	0.493000													8	14					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349131	79349131	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:79349131G>A	ENST00000233735.1	+	4	304	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	67	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCAGAACATGAATTCGGGCA	0.512000													37	81					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111592632	111592632	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:111592632C>T	ENST00000304987.3	+	13	2196	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	675					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACGGCAGAGCCTGGAGACCCA	0.577000													13	22					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160496887	160496887	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:160496887C>T	ENST00000356956.1	+	36	5323	c.5175C>T	c.(5173-5175)ggC>ggT	p.G1725G		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1725					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGATATCGGCCGGGTAGCAG	0.393000													41	10					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209525	32209525	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:32209525C>A	ENST00000396193.1	-	3	773	c.180G>T	c.(178-180)ggG>ggT	p.G60G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCCCTGTGAGCCCATCGATGA	0.522000													46	104					7.88023e-25	8.05379e-25	1	1	0
PLK4	10733	broad.mit.edu	37	4	128811294	128811294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128811294C>T	ENST00000270861.5	+	7	2007	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	PLK4_ENST00000514379.1_Missense_Mutation_p.P537L|PLK4_ENST00000513090.1_Missense_Mutation_p.P546L|PLK4_ENST00000507249.1_Missense_Mutation_p.P544L|PLK4_ENST00000515069.1_Missense_Mutation_p.P500L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	578					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTATGGAGCCACCATGGGGT	0.418000													9	38					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492516	74492516	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74492516G>A	ENST00000354431.4	-	8	2047	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619								p.P619H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGTCCATTGGGAACTTTAAA	0.289000													7	22					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68830447	68830447	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68830447G>A	ENST00000294309.3	+	6	743	c.642G>A	c.(640-642)ccG>ccA	p.P214P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	214					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCGCTGCCGGAAATGGCCA	0.647000													47	55					0	0	1	0	0
CMC4	100272147	broad.mit.edu	37	X	154290193	154290193	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154290193C>T	ENST00000369484.3	-	3	810	c.132G>A	c.(130-132)aaG>aaA	p.K44K	CMC4_ENST00000369479.1_Silent_p.K44K	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		CAGATCTTCCCTTGGGATACT	0.438000													53	97					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667545	65667545	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:65667545T>G	ENST00000327987.4	-	2	550	c.299A>C	c.(298-300)cAc>cCc	p.H100P		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	100	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCTGAAGTGACGGATCAT	0.607000													21	40					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407922	2407922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2407922G>A	ENST00000381223.4	-	2	1042	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ZBED1_ENST00000381218.3_Missense_Mutation_p.S280F|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S280F	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	280						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCAGCAGGGAGCACGCCTT	0.632000													68	124					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22206875	22206875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22206875G>A	ENST00000374695.3	-	16	2255	c.2176C>T	c.(2176-2178)Cac>Tac	p.H726Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	726	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCCACACTGTGGGCACGGCCA	0.617000													16	15					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004470	70004470	+	Missense_Mutation	SNP	G	G	A	rs141358220		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:70004470G>A	ENST00000361484.3	-	1	472	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	50						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCCCTGAAGGAGCACACGTG	0.592000													14	29					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45900260	45900260	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45900260G>A	ENST00000418234.2	-	4	333	c.255C>T	c.(253-255)ccC>ccT	p.P85P	PPP1R13L_ENST00000360957.5_Silent_p.P85P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	85	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCCTTCCGGGGGGACCCTC	0.682000													6	13					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567175	102567175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:102567175G>A	ENST00000260229.4	-	6	920	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	277					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCACAGGCATGGGGTATAGTG	0.413000													28	52					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79589166	79589166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:79589166G>A	ENST00000372391.2	-	12	2137	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	DLG5_ENST00000372388.2_Missense_Mutation_p.S711F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	711	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCACCCAGGGACTTCCTCCG	0.607000													46	96					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196674505	196674505	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:196674505G>A	ENST00000412723.1	-	3	1409	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	421					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGCACCGAGGGCGTTGAAGA	0.647000													10	16					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117158813	117158813	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:117158813G>A	ENST00000369486.3	-	3	1075	c.310C>T	c.(310-312)Cta>Tta	p.L104L	IGSF3_ENST00000369483.1_Silent_p.L104L|IGSF3_ENST00000318837.6_Silent_p.L104L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	104	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGTGCAATAGGGTTGAGTTC	0.527000													10	36					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39923689	39923689	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:39923689C>G	ENST00000342274.4	-	7	3764	c.3402G>C	c.(3400-3402)agG>agC	p.R1134S	BCOR_ENST00000397354.3_Missense_Mutation_p.R1134S|BCOR_ENST00000378455.4_Missense_Mutation_p.R1116S|BCOR_ENST00000378444.4_Missense_Mutation_p.R1134S|BCOR_ENST00000378463.1_Missense_Mutation_p.R11S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1134					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGCGTTTCCTGTCCACCC	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						34	53					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559989	47559989	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:47559989C>T	ENST00000273859.3	+	12	2402	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	711					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGGCAGAGTCCCTCCCTGGAC	0.572000													11	35					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257124	140257124	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140257124C>T	ENST00000398631.2	+	1	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGATCCCGAAGCGGCTC	0.647000													25	40					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488983	17488983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:17488983G>A	ENST00000400588.1	-	1	129	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	8										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCCGGGAGGGTGAGGGGGAC	0.687000													11	9					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49084739	49084739	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49084739C>T	ENST00000376265.2	-	7	1049	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E265K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E330K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	330		Calcium ion selectivity and permeability (By similarity).			axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTCCAGCCTTCCATGGTGACA	0.587000													10	24					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12125812	12125812	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12125812C>T	ENST00000419886.2	-	5	2056	c.1765G>A	c.(1765-1767)Ggg>Agg	p.G589R	ZNF433_ENST00000344980.6_Missense_Mutation_p.G624R|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AAAGCTTTCCCACATTGCTTA	0.438000													26	37					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231344869	231344869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:231344869C>T	ENST00000444294.3	+	8	2848	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	TRIM67_ENST00000366652.2_Missense_Mutation_p.P666S|TRIM67_ENST00000366653.5_Missense_Mutation_p.P666S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P604S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	666	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding	p.P666T(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCACCCAGACCCCGCCTTCGG	0.632000													62	25					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794800	30794800	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30794800G>A	ENST00000262525.4	-	3	1056	c.849C>T	c.(847-849)acC>acT	p.T283T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGCCTGTGTGGGTGGCCTGGT	0.642000													23	40					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966298	88966298	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88966298G>A	ENST00000333190.4	+	4	4611	c.4002G>A	c.(4000-4002)caG>caA	p.Q1334Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1334						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGATGCAACAGCTAAATGAAG	0.383000										HNSCC(36;0.09)			30	73					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414339	48414339	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48414339C>T	ENST00000249598.1	-	2	688	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	177					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCTGTTCCATCCAGAACATCA	0.532000													17	30					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40452852	40452852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40452852C>T	ENST00000345506.4	+	9	1595	c.953C>T	c.(952-954)gCc>gTc	p.A318V	STAT5A_ENST00000452307.2_Missense_Mutation_p.A318V|STAT5A_ENST00000590949.1_Missense_Mutation_p.A318V|STAT5A_ENST00000588868.1_Missense_Mutation_p.A318V|STAT5A_ENST00000546010.2_Missense_Mutation_p.A288V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	318					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GAGGTCAACGCCACCATCACG	0.647000													16	20					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000669	14000669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000669G>A	ENST00000454313.1	-	6	1058	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F	C19orf57_ENST00000586783.1_Missense_Mutation_p.L334F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.L334F			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	334					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCATCCCGAGGGAGGAGCAT	0.657000													17	35					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14808111	14808111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:14808111G>A	ENST00000380881.4	-	18	3733	c.2918C>T	c.(2917-2919)cCt>cTt	p.P973L	FREM1_ENST00000422223.2_Missense_Mutation_p.P972L|FREM1_ENST00000380880.3_Missense_Mutation_p.P972L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	972					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTCAAAACAAGGCATCAGGCC	0.438000													35	10					0	0	1	0	0
FAM229B	619208	broad.mit.edu	37	6	112421922	112421922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:112421922C>T	ENST00000368656.2	+	4	472	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	FAM229B_ENST00000604268.1_Missense_Mutation_p.P59S	NM_001033564.1	NP_001028736.1			family with sequence similarity 229, member B																		AACTGATGTTCCCGTCACTGT	0.418000													19	25					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58824580	58824580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:58824580C>T	ENST00000589222.1	+	6	411	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	BCAS3_ENST00000408905.3_Missense_Mutation_p.L115F|BCAS3_ENST00000588462.1_Missense_Mutation_p.L115F|BCAS3_ENST00000390652.5_Missense_Mutation_p.L115F|BCAS3_ENST00000407086.3_Missense_Mutation_p.L115F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	115						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGCACAAGAGCTCTTCTCTGT	0.393000													65	124					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125588973	125588973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:125588973G>A	ENST00000259467.4	-	2	259	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	32					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CATCTGCCTCGGTCCTTGTCC	0.552000													47	17					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28120125	28120125	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:28120125C>T	ENST00000373943.4	+	3	395	c.270C>T	c.(268-270)ccC>ccT	p.P90P	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	90					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCCTTCCCTTATCTACTT	0.363000													8	25					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147816	67147816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:67147816C>T	ENST00000371037.4	+	15	1156	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P364L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	360	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCACAGGCCCCCCAGGGCCT	0.572000													44	129					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422153	47422153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47422153G>A	ENST00000361866.3	+	32	2202	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	696	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCTGCAGTGGATGGCGGGCG	0.697000													5	3					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39763620	39763620	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:39763620G>A	ENST00000395670.3	-	3	780	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	KIF21A_ENST00000541463.2_Missense_Mutation_p.L121F|KIF21A_ENST00000361418.5_Missense_Mutation_p.L121F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L121F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L121F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	121	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTAAAAAGGTGTTTAACA	0.348000													19	31					0	0	1	0	0
MIR515-1	574462	broad.mit.edu	37	19	54182275	54182275	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54182275C>T	ENST00000384884.1	+	0	19					NR_030184.1|NR_030187.1																						AGTCATTCTCCAAAAGAAAGC	0.373000													23	46					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167532	27167532	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27167532G>A	ENST00000288699.6	+	12	1607	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	DPYSL5_ENST00000401478.1_Silent_p.K483K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	483					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTTTAAAGGTTAGAGGAG	0.557000													29	24					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77240341	77240341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:77240341C>T	ENST00000248594.6	+	11	1189	c.917C>T	c.(916-918)gCt>gTt	p.A306V	PTPN12_ENST00000415482.2_Missense_Mutation_p.A187V|PTPN12_ENST00000435495.2_Missense_Mutation_p.A176V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	306						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATTCATGGAGCTCAGAAAATT	0.318000													60	93					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97892030	97892030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:97892030C>T	ENST00000220763.5	+	4	856	c.646C>T	c.(646-648)Cac>Tac	p.H216Y		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	216					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										CTCAAGTCCTCACACAGGTAT	0.418000													33	54					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66426130	66426130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:66426130G>A	ENST00000341529.3	+	7	1209	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	CDH5_ENST00000563425.2_Missense_Mutation_p.G354E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	354	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCTCCCGCGGGAAACAGAGCC	0.527000													66	101					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503786	47503786	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47503786C>T	ENST00000404338.3	+	6	4341	c.4341C>T	c.(4339-4341)gcC>gcT	p.A1447A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1447	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCCCGGCGCCAGGCCCAGCT	0.642000													26	59					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50469179	50469179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50469179C>T	ENST00000266182.6	-	12	1882	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	TTLL8_ENST00000440475.1_Missense_Mutation_p.G608E					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGATGGGGGTCCCTGGGCAGG	0.692000													3	8					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985581	72985581	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:72985581G>A	ENST00000305632.5	-	6	1057	c.816C>T	c.(814-816)gcC>gcT	p.A272A	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.A236A	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	272										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTAGTTCGAAGGCTCGCACCA	0.547000													20	45					0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27715552	27715552	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27715552C>T	ENST00000264703.3	-	6	1041	c.650G>A	c.(649-651)aGg>aAg	p.R217K		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	217						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCCCACTGGCCTTCCCTGAGG	0.567000													48	81					0	0	1	0	0
TLX2	3196	broad.mit.edu	37	2	74742935	74742935	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74742935G>A	ENST00000233638.7	+	2	899	c.576G>A	c.(574-576)aaG>aaA	p.K192K		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CGCTGGCCAAGGCCTTGCGCA	0.692000													10	18					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732569	138732569	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138732569G>A	ENST00000242351.5	-	13	2796	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S949F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	827	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTTTTGTGGGAATAGATGGC	0.333000													42	47					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66264400	66264400	+	Splice_Site	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:66264400A>T	ENST00000380828.2	+	9	1093	c.940_splice	c.e9+1	p.T313_splice	RABGEF1_ENST00000450873.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000284957.5_Splice_Site_p.T273_splice|RABGEF1_ENST00000439720.2_Splice_Site_p.T286_splice|KCTD7_ENST00000451741.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000437078.2_Splice_Site_p.T287_splice|KCTD7_ENST00000510829.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGGCGATCACAGGTCAGTGAA	0.423000													27	13					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133886309	133886309	+	Missense_Mutation	SNP	G	G	C	rs146922831	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:133886309G>C	ENST00000285928.2	+	15	1893	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	608							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AACCTGCCAAGAGTTTGGCTA	0.383000													24	41					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116510843	116510843	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:116510843C>T	ENST00000410059.1	+	11	1524	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	DPP10_ENST00000393147.2_Silent_p.V352V|DPP10_ENST00000310323.8_Silent_p.V341V|DPP10_ENST00000409163.1_Silent_p.V298V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	348					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCTCACAGTCTGTGAGACCA	0.373000													20	32					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979965	12979965	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12979965C>T	ENST00000251472.4	+	22	2898	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	953					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTCCTCACCCAGCCGGGACT	0.592000													25	50					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1323209	1323209	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1323209G>A	ENST00000400809.3	-	10	1164	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	CCNL2_ENST00000408952.5_Missense_Mutation_p.R165C|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	387	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTCTGCTCACGGCTCCGGCTC	0.637000													12	10					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85961614	85961614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85961614C>T	ENST00000372117.3	+	7	680	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	CDHR1_ENST00000332904.3_Nonsense_Mutation_p.Q193*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	193	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCTGCGCCTCCAGGCTGGGGC	0.617000													9	27					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427755	103427755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103427755C>T	ENST00000358392.2	-	40	3444	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E915K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1031K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E992K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1031	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTCTTTCCCCTGGGAAA	0.383000													35	32					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291312	61291312	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61291312G>A	ENST00000263846.4	-	7	1221	c.894C>T	c.(892-894)atC>atT	p.I298I	SYT7_ENST00000539008.1_Silent_p.I581I|SYT7_ENST00000535826.1_Silent_p.I417I|SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000540677.1_Silent_p.I373I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	298	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGCCCCCGATGTCCATGG	0.602000													105	183					0	0	1	0	0
NTAN1	123803	broad.mit.edu	37	16	15134961	15134961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15134961C>T	ENST00000287706.3	-	7	597	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	169						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						TTTTCGTTTTCTTCCCGGTCA	0.323000													18	44					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209167006	209167006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209167006C>T	ENST00000264380.4	+	10	1407	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R417C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R331C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R320C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	417	DEP.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTTGATGGACGTTGGCTGGA	0.408000													21	10					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6533117	6533117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:6533117C>T	ENST00000321612.6	-	25	3113	c.2963G>A	c.(2962-2964)cGg>cAg	p.R988Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	988					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTCATCAATCCGGGCAATCGT	0.463000													65	18					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815307	147815307	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:147815307C>T	ENST00000361727.3	+	16	2997	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	827	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTCTACTTCAAAACATTAA	0.438000										HNSCC(39;0.1)			34	63					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71096926	71096926	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71096926C>T	ENST00000317987.5	+	2	127	c.15C>T	c.(13-15)ctC>ctT	p.L5L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	5						extracellular region											AGAAAGTTCTCCTCCTGATCA	0.338000													20	68					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640436	156640436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156640436C>T	ENST00000368223.3	-	4	3676	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1182	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCTGCTCCCCTGGGGGCC	0.642000													24	78					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488015	24488015	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488015C>T	ENST00000264463.4	-	12	2631	c.2124G>A	c.(2122-2124)acG>acA	p.T708T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473000										HNSCC(23;0.051)			30	47					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799718	67799718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67799718G>A	ENST00000544246.1	-	2	3546	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	PCDH9_ENST00000377865.2_Missense_Mutation_p.P952L|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	952					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGAGTGTCTGGTTTGAGATG	0.512000													37	70					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11118684	11118684	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11118684C>T	ENST00000409790.1	+	13	1673	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	CLEC16A_ENST00000409552.3_Silent_p.F463F|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	481								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAGACCCTTCCTGGATATGG	0.542000													5	9					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968792	99968792	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99968792C>T	ENST00000298999.3	+	5	1224	c.921C>T	c.(919-921)tcC>tcT	p.S307S	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.S307S	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ATACAGATTCCATTCCTGCAA	0.398000													38	81					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32366042	32366042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:32366042C>G	ENST00000298386.2	+	15	1316	c.1245C>G	c.(1243-1245)aaC>aaG	p.N415K	RXFP2_ENST00000380314.1_Missense_Mutation_p.N391K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	415						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTTGGCTAACAATATCCTCA	0.383000													33	51					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46032265	46032265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:46032265C>T	ENST00000372070.3	+	4	856	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	AKR1A1_ENST00000471651.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.L37F	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	37					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TAAGTATGCCCTTAGCGTAGG	0.527000													28	81					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92401586	92401586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92401586C>T	ENST00000276609.3	+	16	1935	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P566S|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P566S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	566	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACAGTCCTGCCCTAATGAGAA	0.423000													70	150					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102898138	102898138	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102898138C>T	ENST00000312132.4	-	0	2434																											TTCACTATTCCCATGAATGTG	0.333000													46	55					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38288965	38288965	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38288965C>T	ENST00000436911.2	-	0	208																											AGCTAAATTTCATGTATGTGT	0.388000													66	87					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596794	48596794	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48596794G>A	ENST00000310248.2	-	1	376	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AACATACAAAGGAGACAATGT	0.498000													15	19					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258544	43258544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43258544G>A	ENST00000404209.4	-	5	1280	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	395	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.448000													101	185					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801499	109801499	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692000													8	7					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7221174	7221174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7221174G>A	ENST00000399464.2	-	26	4153	c.4138C>T	c.(4138-4140)Cac>Tac	p.H1380Y	NEURL4_ENST00000315614.7_Missense_Mutation_p.H1378Y|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Missense_Mutation_p.H1356Y|RP11-542C16.2_ENST00000575474.1_Silent_p.P193P	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						CTGCGCCTGTGGGCCTCGTCT	0.587000													31	26					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153641566	153641566	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153641566C>T	ENST00000299328.5	+	3	550	c.261C>T	c.(259-261)atC>atT	p.I87I	TAZ_ENST00000369776.4_Silent_p.I62I|TAZ_ENST00000350743.4_Silent_p.I87I|TAZ_ENST00000351413.4_Silent_p.I87I|TAZ_ENST00000369790.4_Silent_p.I87I	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	87					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TCCGCCACATCTGGAACCTGA	0.607000													20	42					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92625555	92625555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:92625555G>A	ENST00000298875.4	+	14	2335	c.2050G>A	c.(2050-2052)Gga>Aga	p.G684R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	684					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCTGTTCGGAGATGATGA	0.413000													28	40					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471079	132471079	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132471079C>T	ENST00000333577.4	+	7	2167	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	EP400_ENST00000389561.2_Silent_p.L650L|EP400_ENST00000330386.6_Silent_p.L650L|EP400_ENST00000389562.2_Silent_p.L649L|EP400_ENST00000332482.4_Silent_p.L613L			Q96L91	EP400_HUMAN	E1A binding protein p400	686					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGACAAGGCTCCCTGTGGACC	0.652000													38	95					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552363	43552363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43552363G>A	ENST00000220420.5	-	3	330	c.323C>T	c.(322-324)cCc>cTc	p.P108L	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	108					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCGCCGTGGGAGGAGCGCA	0.612000													45	62					0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152113854	152113854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152113854G>A	ENST00000535861.1	+	17	1396	c.1348G>A	c.(1348-1350)Gga>Aga	p.G450R	ZNF185_ENST00000539731.1_Missense_Mutation_p.G421R|ZNF185_ENST00000318504.7_Missense_Mutation_p.G359R|ZNF185_ENST00000318529.8_Missense_Mutation_p.G197R|ZNF185_ENST00000449285.2_Missense_Mutation_p.G419R|ZNF185_ENST00000370268.4_Missense_Mutation_p.G418R|ZNF185_ENST00000324823.6_Missense_Mutation_p.G186R|ZNF185_ENST00000370270.1_Missense_Mutation_p.G181R	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	418						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGGGTCGGAGAGGCCTG	0.582000													5	11					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317164	203317164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203317164C>A	ENST00000354955.4	-	2	698	c.235G>T	c.(235-237)Gag>Tag	p.E79*	FMOD_ENST00000464898.1_Splice_Site	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	79	Cys-rich.|LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGTCGCACTCCTGGGGGCAG	0.597000													11	9					6.40141e-05	6.42256e-05	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123302227	123302227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:123302227G>A	ENST00000296513.2	+	4	438	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ADAD1_ENST00000388724.2_Missense_Mutation_p.E85K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E67K|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	85					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.E85K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATACCTAAGGAATTTATAAT	0.368000													33	37					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101169	27101169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27101169C>T	ENST00000324856.7	+	18	4822	c.4451C>T	c.(4450-4452)cCc>cTc	p.P1484L	ARID1A_ENST00000374152.2_Missense_Mutation_p.P1101L|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1484					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGGGCGGCCCCATACAGGCA	0.567000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								29	65					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92983007	92983007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92983007C>T	ENST00000544910.1	+	27	2649	c.2429C>T	c.(2428-2430)cCc>cTc	p.P810L	CCDC132_ENST00000305866.5_Missense_Mutation_p.P840L|CCDC132_ENST00000535481.1_Missense_Mutation_p.P560L|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000474412.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	840										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCGCATACCCTTGCCTGTG	0.343000													63	86					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975465	19975465	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:19975465C>T	ENST00000295824.9	-	1	207	c.46G>A	c.(46-48)Gga>Aga	p.G16R	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	16					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTTGTCTCCTAAATCATCC	0.483000													7	10					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250715	18250715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:18250715C>T	ENST00000377369.2	+	3	740	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S22F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S156F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S156F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	156					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGAAGATTCCTCTTTCCTT	0.403000													20	43					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142525009	142525009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:142525009C>T	ENST00000273482.6	+	12	2603	c.2212C>T	c.(2212-2214)Cga>Tga	p.R738*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R772*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	772					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GTCAAAATTCCGAAATGAAAT	0.363000													20	35					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785189	8785189	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8785189T>G	ENST00000447110.1	-	16	2339	c.2215A>C	c.(2215-2217)Agt>Cgt	p.S739R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	739	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTTCGTCCACTGATGGCCCCC	0.612000													9	13					0	0	1	0	0
MRPS17	51373	broad.mit.edu	37	7	56020908	56020908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:56020908C>T	ENST00000285298.4	+	2	149	c.20C>T	c.(19-21)tCc>tTc	p.S7F	MRPS17_ENST00000426595.1_Missense_Mutation_p.S102F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	7					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCGCTCATCCGTCCATGCC	0.433000													72	68					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477276	42477276	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42477276G>A	ENST00000434000.1	-	9	2217	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	GPATCH8_ENST00000591680.1_Silent_p.A723A			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	723						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AATCTGCTGGGGCTGATGACT	0.517000													45	68					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363026	42363026	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42363026G>A	ENST00000290472.3	-	18	2026	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	644	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGTCCACCAGGCAGAGCCGGG	0.632000													7	11					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169510	45169510	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45169510G>A	ENST00000260653.3	+	1	609	c.267G>A	c.(265-267)ccG>ccA	p.P89P		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	89					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTTCTCGCCGGAGCAGGTGG	0.746000													10	19					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1519990	1519990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1519990C>T	ENST00000571650.1	-	3	540	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGCAGCTGAGCCAGCCGTTCA	0.592000													23	38					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520155	176520155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176520155G>A	ENST00000292408.4	+	9	1319	c.1074G>A	c.(1072-1074)tgG>tgA	p.W358*	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	358					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	ACCCCACATGGACCGCAGCAG	0.642000										TSP Lung(9;0.080)			14	16					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781357	3781357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3781357G>A	ENST00000262367.5	-	30	5817	c.5008C>T	c.(5008-5010)Ctc>Ttc	p.L1670F	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1632F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1670	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTCTGGCGAGGGTGAGGAAG	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	10					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737157	157737157	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157737157C>T	ENST00000361516.3	-	6	1074	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	FCRL2_ENST00000392274.3_Silent_p.G342G|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.G89G	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	342	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGAGCTGTTCCCAAGGGTGA	0.582000													31	71					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140218518	140218518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140218518G>A	ENST00000275884.6	-	19	3436	c.3019C>T	c.(3019-3021)Cac>Tac	p.H1007Y	DENND2A_ENST00000537639.1_Missense_Mutation_p.H1007Y|DENND2A_ENST00000496613.1_Missense_Mutation_p.H1007Y			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	1007										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TATTTCTTGTGGAGAAATTTC	0.428000													12	38					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520170	23520170	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:23520170G>A	ENST00000374619.1	-	1	1052	c.543C>T	c.(541-543)gcC>gcT	p.A181A	HTR1D_ENST00000314113.3_Silent_p.A181A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	181					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCTCCTCCTGGGCCTTGGCCT	0.602000													20	42					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573681	52573681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573681C>T	ENST00000395489.2	-	12	1658	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	A1CF_ENST00000282641.2_Missense_Mutation_p.G428E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.G420E|A1CF_ENST00000373993.1_Missense_Mutation_p.G428E|A1CF_ENST00000373995.3_Missense_Mutation_p.G428E|A1CF_ENST00000395495.1_Missense_Mutation_p.G373E|A1CF_ENST00000373997.3_Missense_Mutation_p.G420E|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAGCTCCATCCCAGGTAAAAT	0.463000													35	62					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830774	13830774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13830774C>T	ENST00000265104.4	-	36	6097	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACGTATTTCCCGAGGCATCG	0.488000									Kartagener syndrome				33	48					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55905032	55905032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:55905032G>A	ENST00000371263.3	+	1	218	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	SPO11_ENST00000371260.4_Missense_Mutation_p.G37R|SPO11_ENST00000345868.4_Missense_Mutation_p.G37R	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	37					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCCCCCAACTGGGGGAAGCCG	0.677000								Editing and processing nucleases					10	14					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78622602	78622602	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:78622602C>T	ENST00000434584.2	-	1	447	c.111_splice	c.e1+1	p.K37_splice	ITM2A_ENST00000373298.2_Splice_Site_p.K37_splice	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	37						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGACAGCTACCTTGCCGGTCA	0.622000													6	10					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105586348	105586348	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:105586348A>T	ENST00000264122.4	-	2	395	c.74T>A	c.(73-75)aTt>aAt	p.I25N	CBLB_ENST00000394027.3_Missense_Mutation_p.I47N|CBLB_ENST00000405772.1_Missense_Mutation_p.I25N|CBLB_ENST00000545639.1_Missense_Mutation_p.I47N|CBLB_ENST00000403724.1_Missense_Mutation_p.I25N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	25					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGCATCAATAATACCCAAAAT	0.473000			Mis S		AML								67	73					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25064876	25064876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:25064876T>C	ENST00000381989.3	-	10	1249	c.1144A>G	c.(1144-1146)Att>Gtt	p.I382V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	382	PARP catalytic.				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)		ACATGCTCAATTTTGCACCTC	0.408000													31	52					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115396	168115396	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168115396G>A	ENST00000409728.1	+	11	2528	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.L558L|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.L813L|XIRP2_ENST00000409756.2_Silent_p.L780L|XIRP2_ENST00000409043.1_Silent_p.L780L|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	102					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATGGCTCTGAAGAAACAGA	0.428000													12	25					0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144124662	144124662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144124662G>T	ENST00000395172.1	+	3	521	c.169G>T	c.(169-171)Gag>Tag	p.E57*	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	57										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGATCTGGGAGTCCACAAC	0.607000													8	13					0.00307968	0.00308522	1	1	0
AMZ2	51321	broad.mit.edu	37	17	66251959	66251959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:66251959C>T	ENST00000359904.3	+	6	2001	c.869C>T	c.(868-870)cCt>cTt	p.P290L	AMZ2_ENST00000392720.2_Missense_Mutation_p.P290L|AMZ2_ENST00000577866.1_Missense_Mutation_p.P290L|AMZ2_ENST00000359783.4_Missense_Mutation_p.P232L|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.P290L|AMZ2_ENST00000580753.1_Missense_Mutation_p.P290L	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	290							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCTTTGCCCTATCTGTTTG	0.507000													23	37					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269171	63269171	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:63269171G>A	ENST00000322893.7	-	9	1966	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	KCNH5_ENST00000394968.1_Silent_p.F508F|KCNH5_ENST00000420622.2_Silent_p.F566F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	566					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAATGGTTTGGAACTCTACCG	0.512000													23	47					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099088	91099088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91099088G>A	ENST00000371818.4	+	2	856	c.676G>A	c.(676-678)Gga>Aga	p.G226R	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226R|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	226					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AGAAGCTGAAGGAGAGCAGTT	0.443000													28	27					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321105	106321105	+	RNA	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106321105C>A	ENST00000390559.2	-	0	883																											CCCGGAATTCCAGTCATCCTC	0.612000													12	21					3.07112e-06	3.08868e-06	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6008078G>A	ENST00000332249.4	-	1	137	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468000													12	31					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107920799	107920799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107920799C>T	ENST00000328300.6	+	44	4122	c.3878C>T	c.(3877-3879)cCa>cTa	p.P1293L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1287L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1287	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGAAATCCAGGCCAACCT	0.483000									Alport syndrome with Diffuse Leiomyomatosis				41	44					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589607	140589607	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140589607G>A	ENST00000239450.2	+	1	1317	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	PCDHB12_ENST00000541609.1_Silent_p.G39G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		376	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACTCTGGGGACAACGGAA	0.453000													28	35					0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054765	177054765	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:177054765C>T	ENST00000331462.4	+	2	1105	c.882C>T	c.(880-882)gcC>gcT	p.A294A		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	294						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GGCTTCTGGCCACGGCCATTC	0.532000													51	78					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45052822	45052822	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45052822C>T	ENST00000265564.7	+	8	915	c.867C>T	c.(865-867)ttC>ttT	p.F289F	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	289					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGTTGGATTCCTGGGATGAT	0.448000													10	18					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118897433	118897433	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:118897433C>T	ENST00000277905.2	-	1	379	c.135G>A	c.(133-135)aaG>aaA	p.K45K	VAX1_ENST00000369206.5_Silent_p.K45K	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	45						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGCGGCTCCTTGAGGAAGG	0.652000													30	58					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219289047	219289047	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219289047C>T	ENST00000248444.5	+	3	211	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.F41F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	41	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592000													39	22					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666370	15666370	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:15666370C>T	ENST00000262041.5	-	2	1100		c.e2+1			NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2						blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCCAGCTTTACCTGTCTTTCA	0.393000													45	52					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701760	16701760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:16701760G>A	ENST00000513610.1	-	25	3198	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	MYO10_ENST00000515803.1_Missense_Mutation_p.S254F|MYO10_ENST00000505695.1_Missense_Mutation_p.S254F|MYO10_ENST00000427430.2_Missense_Mutation_p.S272F|MYO10_ENST00000274203.9_Missense_Mutation_p.S272F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	915					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTCTGCAGGGAAGCCTCGGT	0.607000													11	20					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263083	263083	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:263083C>T	ENST00000360127.6	+	2	465	c.449C>T	c.(448-450)aCc>aTc	p.T150I	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	150										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GACTCCTCCACCGTCAGCCTC	0.522000													32	59					0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	536324	536324	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536324C>T	ENST00000215574.4	+	3	564	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	116					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTGGAACCCCACGCAGAA	0.642000													7	4					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77270233	77270233	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77270233G>A	ENST00000251089.2	-	6	1515	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ANGEL1_ENST00000557179.1_Missense_Mutation_p.S33F	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	468										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGCTGATGGGAGAAGTCTTC	0.512000													58	104					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742133	121742133	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:121742133C>T	ENST00000452319.1	+	12	1830	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	GLI2_ENST00000314490.11_Silent_p.G262G|GLI2_ENST00000361492.4_Silent_p.G590G|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	590					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGTCCACGGCCCAGATGCCC	0.602000													69	76					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869341	150869341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150869341C>T	ENST00000370353.3	+	4	922	c.532C>T	c.(532-534)Cct>Tct	p.P178S	PRRG3_ENST00000538575.1_Missense_Mutation_p.P178S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	178						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTACCTCCCTGAGCTCTC	0.677000													20	46					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235150	73235150	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:73235150G>A	ENST00000377110.2	-	15	2178	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	TRPM3_ENST00000360823.2_Silent_p.L507L|TRPM3_ENST00000358082.3_Silent_p.L507L|TRPM3_ENST00000377111.2_Silent_p.L645L|TRPM3_ENST00000377105.1_Silent_p.L504L|TRPM3_ENST00000396292.4_Silent_p.L517L|TRPM3_ENST00000408909.2_Silent_p.L504L|TRPM3_ENST00000423814.3_Silent_p.L672L|TRPM3_ENST00000396280.5_Silent_p.L494L|TRPM3_ENST00000357533.2_Silent_p.L649L|TRPM3_ENST00000377106.1_Silent_p.L517L|TRPM3_ENST00000396285.1_Silent_p.L492L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	670						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCCGCTTCATGAGAACAGCCC	0.552000													59	17					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195496024	195496024	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195496024C>T	ENST00000463781.3	-	7	13858		c.e7-1		MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGTTGCTCTGGGGGTGGG	0.632000													10	14					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154397	22154397	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22154397C>T	ENST00000397126.4	-	4	3587	c.3439G>A	c.(3439-3441)Ggc>Agc	p.G1147S	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)				TAGGCTTTGCCACATTCTTCA	0.363000													11	17					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746270	111746270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:111746270G>T	ENST00000261726.6	+	14	1352	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	400						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TATTGCAAAGGAGGCCTTCTT	0.627000													14	30					2.32078e-09	2.3404e-09	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106526692	106526692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106526692G>A	ENST00000359195.3	+	10	3295	c.2985G>A	c.(2983-2985)atG>atA	p.M995I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.M995I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M995I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	995	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTTGTGATGGGAACTTCTG	0.453000													15	49					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96019254	96019254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:96019254C>G	ENST00000297954.4	+	10	2215	c.2215C>G	c.(2215-2217)Ccc>Gcc	p.P739A	WNK2_ENST00000395475.2_Missense_Mutation_p.P673A|WNK2_ENST00000427277.2_Missense_Mutation_p.P351A|WNK2_ENST00000395477.2_Missense_Mutation_p.P739A|WNK2_ENST00000349097.3_Missense_Mutation_p.P351A|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	739					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCGACACCCCTGCCGCA	0.687000													6	2					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073173	74073173	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74073173C>T	ENST00000329003.3	+	2	915	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	275					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGCTTCGCATCCTCTCGCACC	0.642000													10	13					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389383	48389383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389383G>A	ENST00000224600.4	-	1	1608	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	499	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCGGCCTCAGGGCCCTGGAAG	0.652000													14	29					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7626395	7626395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:7626395C>T	ENST00000338316.4	+	4	775	c.686C>T	c.(685-687)tCg>tTg	p.S229L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	229					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCATCAAGTCGCGGATCAAG	0.393000													27	56					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126137568	126137568	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:126137568G>A	ENST00000373631.3	+	12	3580	c.3579G>A	c.(3577-3579)ggG>ggA	p.G1193G	CRB2_ENST00000373629.2_Silent_p.G861G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1193	EGF-like 15.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CAGCTGGAGGGGTGTCTGAAT	0.637000													23	11					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721167	7721167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7721167G>A	ENST00000572933.1	+	67	11689	c.10229G>A	c.(10228-10230)gGa>gAa	p.G3410E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3410E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3410	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACATGGAAGGAGGCCAGGTG	0.622000													19	44					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572905	53572905	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53572905A>G	ENST00000601421.1	-	3	1650	c.774T>C	c.(772-774)ttT>ttC	p.F258F	ZNF160_ENST00000418871.1_Silent_p.F294F|ZNF160_ENST00000429604.1_Silent_p.F294F|ZNF160_ENST00000599056.1_Silent_p.F294F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	294					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACGAACAGTAAAGGTTTTGC	0.418000													43	69					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917272	54917272	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:54917272G>A	ENST00000293373.6	+	19	2052	c.1973G>A	c.(1972-1974)aGg>aAg	p.R658K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R608K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	658					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCCCGAGAGGGACAAGCCA	0.542000													44	57					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:62212800G>A	ENST00000519846.1	+	3	886	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_ENST00000325897.4_Silent_p.R138R|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	138	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTACGGCAGGAAGATTCTTT	0.448000													17	20					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358364	209358364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209358364G>A	ENST00000272847.2	+	13	1846	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	545						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATGCCAAGGAGAAACTGAGGA	0.498000													31	12					0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33134978	33134978	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:33134978G>A	ENST00000297157.3	-	6	551	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	178	Poly-Ser.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TACCTTCAGAGGAACTGGAGC	0.348000													24	41					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565299	18565299	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:18565299C>T	ENST00000545289.1	-	5	1770	c.1520G>A	c.(1519-1521)aGt>aAt	p.S507N		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAGAGATGAACTGCACTTAAA	0.358000													27	51					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890387	229890387	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:229890387G>A	ENST00000392054.3	-	4	1047	c.708C>T	c.(706-708)tcC>tcT	p.S236S	PID1_ENST00000354069.6_Silent_p.S238S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.S205S|PID1_ENST00000409462.1_Silent_p.S156S	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	238	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AAACCTCTTCGGAGGAGCTGT	0.532000													38	23					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104158035	104158035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:104158035C>T	ENST00000369966.3	+	10	1083	c.833C>T	c.(832-834)cCc>cTc	p.P278L	NFKB2_ENST00000428099.1_Missense_Mutation_p.P278L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P278L|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	278	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GACTTCTCTCCCACAGATGTG	0.562000			T	IGH@	B-NHL								39	73					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65562633	65562633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:65562633C>T	ENST00000335987.3	+	4	977	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	OVOL1_ENST00000532448.1_Missense_Mutation_p.R147W	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	209					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CAAGGAGCGGCGGGCCAAGCT	0.617000													15	19					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44074302	44074302	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44074302A>G	ENST00000378832.1	+	6	919	c.863A>G	c.(862-864)gAg>gGg	p.E288G		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	288							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTCCACCTGGAGAGTGAGGTC	0.547000													68	99					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166872124	166872124	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166872124G>A	ENST00000423058.2	-	17	3560	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	SCN1A_ENST00000303395.4_Silent_p.F1181F|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1170F|SCN1A_ENST00000409050.1_Silent_p.F1153F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1181						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TACCTTCAGTGAAACAAGCTT	0.413000													28	73					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30309967	30309967	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30309967C>T	ENST00000376659.5	+	8	1996	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	TRIM39_ENST00000396551.3_Silent_p.Y466Y|TRIM39_ENST00000396548.1_Silent_p.Y466Y|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Silent_p.Y466Y|TRIM39_ENST00000376656.4_Silent_p.Y496Y|TRIM39_ENST00000396547.1_Silent_p.Y496Y	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CCCTCTTCTACCCAGGCATCC	0.522000													31	13					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084497	248084497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248084497C>G	ENST00000319968.4	+	1	178	c.178C>G	c.(178-180)Ctc>Gtc	p.L60V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGTACTTCCTCCTGAGCCA	0.542000													6	99					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911499	67911499	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67911499G>A	ENST00000358933.5	+	6	968	c.729G>A	c.(727-729)gaG>gaA	p.E243E	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	243					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCATCCCTGAGGAGAGCGAAG	0.597000													23	49					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17597416	17597416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17597416C>T	ENST00000375460.3	+	8	914	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGTGTTCCGAGTGGCACC	0.622000													13	33					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328892	80328892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:80328892G>A	ENST00000358842.3	-	1	480	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408000													25	87					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79522687	79522687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:79522687G>A	ENST00000264908.6	+	11	1133	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	ANXA3_ENST00000512884.1_Missense_Mutation_p.A213T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A213T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	252					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAACACGCCGGCCTTTTTAGC	0.383000													27	55					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548409	228548409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228548409C>T	ENST00000284548.11	+	81	19890	c.19816C>T	c.(19816-19818)Ctt>Ttt	p.L6606F	OBSCN_ENST00000366709.4_Missense_Mutation_p.L3725F|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACGGTCACCCTTCACATCTG	0.637000													14	5					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15230043	15230043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15230043G>A	ENST00000263383.3	-	9	1124	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Y	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGAGGGGGTGGTTGCGGCCT	0.642000													35	67					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157819	154157819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154157819G>A	ENST00000360256.4	-	14	4446	c.4246C>T	c.(4246-4248)Cca>Tca	p.P1416S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1416	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTAATAGATGGAAATGATGAT	0.423000													95	94					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1250819	1250819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:1250819G>A	ENST00000397203.2	+	8	2009	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ERC1_ENST00000546231.2_Missense_Mutation_p.E535K|ERC1_ENST00000355446.5_Missense_Mutation_p.E535K|ERC1_ENST00000360905.4_Missense_Mutation_p.E535K|ERC1_ENST00000589028.1_Missense_Mutation_p.E535K|ERC1_ENST00000543086.3_Missense_Mutation_p.E507K|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	535					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAAGAGAAGGAAACCATGTT	0.373000													22	37					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44422566	44422566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:44422566C>T	ENST00000372343.3	+	5	1851	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	397					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGTGGATGTGCTTCTGCACAA	0.517000													17	45					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839469	57839469	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57839469C>T	ENST00000321545.4	+	4	984	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAATGCCCTCCTTGTTCAGC	0.428000													45	58					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53223873	53223873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53223873C>T	ENST00000330553.5	-	4	823	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	263	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATGCAGATCCATCCGGCCCA	0.567000													24	40					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63661028	63661028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:63661028C>A	ENST00000409120.1	-	3	3650	c.100G>T	c.(100-102)Gag>Tag	p.E34*	WDPCP_ENST00000398544.3_Nonsense_Mutation_p.E67*|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Nonsense_Mutation_p.E34*|WDPCP_ENST00000409562.3_Nonsense_Mutation_p.E226*|WDPCP_ENST00000272321.7_Nonsense_Mutation_p.E226*			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	226					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGATGTCGCTCTGTTGTCTTG	0.388000													15	37					2.23348e-06	2.24693e-06	1	1	0
WDR16	146845	broad.mit.edu	37	17	9536340	9536340	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:9536340G>A	ENST00000352665.5	+	10	1379	c.1310G>A	c.(1309-1311)gGg>gAg	p.G437E	WDR16_ENST00000299764.5_Missense_Mutation_p.G447E|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.G369E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	437						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGGCGGTGGGGAAGGGGAG	0.463000													29	28					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31600532	31600532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:31600532C>T	ENST00000389082.5	-	6	2065	c.1801G>A	c.(1801-1803)Gta>Ata	p.V601I	DENND5B_ENST00000354285.4_Missense_Mutation_p.V623I|DENND5B_ENST00000536562.1_Missense_Mutation_p.V636I|DENND5B_ENST00000306833.6_Missense_Mutation_p.V636I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	601						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTGCCCTTACATTATACAGC	0.368000													11	21					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621176	43621176	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43621176C>T	ENST00000305641.5	-	1	1627	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	LCMT2_ENST00000544735.1_Silent_p.V83V|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	504					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTACAGGTTCCACCACGCTTC	0.493000													51	76					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29845167	29845167	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29845167C>T	ENST00000357402.5	+	4	573	c.435C>T	c.(433-435)ttC>ttT	p.F145F	MVP_ENST00000395353.1_Silent_p.F145F|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	145					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTGGCTTTTCGAGGGACCTG	0.542000													45	52					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136049	40136049	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40136049A>T	ENST00000278198.2	-	2	3757	c.1794T>A	c.(1792-1794)taT>taA	p.Y598*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Y598*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	598					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTATGAGTTATAGTGATTTA	0.408000													51	75					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131890	91131890	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:91131890G>A	ENST00000373094.1	+	2	1496	c.651G>A	c.(649-651)atG>atA	p.M217I	PCDH11X_ENST00000395337.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M217I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.M217I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	217	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTACGTGATGAAAGTAAAGG	0.413000													70	143					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917882	144917882	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:144917882T>G	ENST00000529945.1	-	7	2332	c.1893A>C	c.(1891-1893)gaA>gaC	p.E631D	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E534D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E605D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E605D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E631D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E255D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	468					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCATTTGCTTCAAGGGTTT	0.368000			T	PDGFRB	MPD								34	303					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434119	62434119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:62434119G>A	ENST00000532971.1	+	3	576	c.319G>A	c.(319-321)Gac>Aac	p.D107N	C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	107						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GCTGGGGGTGGACTTTTCTCC	0.592000													21	45					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588039	247588039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247588039C>T	ENST00000366497.2	+	4	2074	c.1294C>T	c.(1294-1296)Ctt>Ttt	p.L432F	NLRP3_ENST00000391827.2_Missense_Mutation_p.L432F|NLRP3_ENST00000366496.2_Missense_Mutation_p.L432F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432F|NLRP3_ENST00000336119.3_Missense_Mutation_p.L432F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	432	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L432I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCAAGAGCCTTGCCCAGAC	0.597000													20	24					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47527718	47527718	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:47527718G>T	ENST00000285039.7	-	5	818	c.519C>A	c.(517-519)gcC>gcA	p.A173A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	173	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCATACTTGGCTGATACCG	0.517000													39	67					4.32679e-17	4.40457e-17	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1803570	1803570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:1803570C>T	ENST00000340107.4	+	7	1004	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FGFR3_ENST00000481110.2_Missense_Mutation_p.P250S|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.P250S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P250S|FGFR3_ENST00000412135.2_Missense_Mutation_p.P250S|FGFR3_ENST00000352904.1_Missense_Mutation_p.P250S	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	250			P -> R (in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AGAGCGCTCCCCGCACCGGCC	0.741000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				8	14					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3908331	3908331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3908331C>T	ENST00000450849.2	+	6	1077	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	ATCAY_ENST00000301260.6_Missense_Mutation_p.L204F|ATCAY_ENST00000398448.3_Missense_Mutation_p.L210F|ATCAY_ENST00000600960.1_Missense_Mutation_p.L204F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	204	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACAGCAGCCTCCCCGACTA	0.642000													6	2					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50589706	50589706	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:50589706C>T	ENST00000442544.2	+	6	1633	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N	DCC_ENST00000581580.1_5'UTR|DCC_ENST00000412726.1_Silent_p.N187N|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	339	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCCTTCCAACCTGTATGCCT	0.438000													98	124					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76174919	76174919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76174919C>T	ENST00000529032.1	+	6	626	c.626C>T	c.(625-627)tCt>tTt	p.S209F	C11orf30_ENST00000525919.1_Missense_Mutation_p.S210F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S224F|C11orf30_ENST00000524490.1_Missense_Mutation_p.S210F|C11orf30_ENST00000334736.3_Missense_Mutation_p.S209F|C11orf30_ENST00000533248.1_Missense_Mutation_p.S223F|C11orf30_ENST00000343878.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S224F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	209	Interaction with BRCA2.|Poly-Ser.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CGAACAAACTCTTCCAGCTCC	0.443000													64	99					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19032136	19032136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:19032136G>A	ENST00000354791.3	-	15	960	c.719C>T	c.(718-720)tCt>tTt	p.S240F	GPR64_ENST00000340581.3_Missense_Mutation_p.S226F|GPR64_ENST00000379873.2_Missense_Mutation_p.S256F|GPR64_ENST00000360279.4_Missense_Mutation_p.S234F|GPR64_ENST00000379878.3_Missense_Mutation_p.S240F|GPR64_ENST00000357544.3_Missense_Mutation_p.S226F|GPR64_ENST00000379869.3_Missense_Mutation_p.S256F|GPR64_ENST00000357991.3_Missense_Mutation_p.S253F|GPR64_ENST00000356606.4_Missense_Mutation_p.S242F|GPR64_ENST00000379876.1_Missense_Mutation_p.S232F			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	256					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTGGCTGGAAGAAAATGGTGG	0.522000													25	36					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133365	153133365	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133365C>T	ENST00000370060.1	-	16	2018	c.1828_splice	c.e16-1	p.G610_splice	L1CAM_ENST00000370055.1_Splice_Site_p.G605_splice|L1CAM_ENST00000543994.1_Splice_Site_p.G612_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G605_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G612_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G610_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G610_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	610					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGGCTCCCTGAGGGTGG	0.662000													73	74					0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327774	88327774	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:88327774G>A	ENST00000347055.3	-	4	702	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	103										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGAACTGACAGTAGCTCAGAG	0.433000													37	56					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038281	43038281	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43038281C>T	ENST00000267890.6	-	15	3555	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1149					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CACTGGGACTCCTGCGAGGGA	0.562000													38	87					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55848745	55848745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:55848745G>A	ENST00000247178.5	-	6	847	c.812C>T	c.(811-813)cCt>cTt	p.P271L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	271					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCCATTGTTAGGGAGGCTAAT	0.507000													38	69					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19358055	19358055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:19358055G>A	ENST00000307015.9	+	24	4373	c.2621G>A	c.(2620-2622)cGa>cAa	p.R874Q	DENND4C_ENST00000380432.2_Missense_Mutation_p.R1401Q|DENND4C_ENST00000540671.1_Missense_Mutation_p.R731Q|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1637Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1686Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1401						integral to membrane		p.R1401L(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTTGACTCGAAGTCACAGT	0.398000													32	16					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907314	7907314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7907314C>T	ENST00000254854.4	+	3	1016	c.866C>T	c.(865-867)cCg>cTg	p.P289L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	289					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCCCCAGGCCCGGAGGCCTTG	0.682000													88	30					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105804674	105804674	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:105804674C>G	ENST00000393127.2	+	14	2719	c.2273C>G	c.(2272-2274)aCg>aGg	p.T758R	GRIA4_ENST00000282499.5_Missense_Mutation_p.T758R|GRIA4_ENST00000530497.1_Missense_Mutation_p.T758R|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T758R	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	758					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAGTAGCAACGCCCAAGGGT	0.428000													20	28					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122125366	122125366	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:122125366G>A	ENST00000263710.4	-	35	4073	c.3684C>T	c.(3682-3684)ggC>ggT	p.G1228G	CLASP1_ENST00000397587.3_Silent_p.G1168G|CLASP1_ENST00000541377.1_Silent_p.G1167G|CLASP1_ENST00000545861.1_Silent_p.G935G|CLASP1_ENST00000409078.3_Silent_p.G1161G|CLASP1_ENST00000541859.1_Silent_p.G945G|CLASP1_ENST00000455322.2_Silent_p.G1184G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1228					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACCCCCCCGGCCCTCAGTGG	0.632000													17	40					0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60197151	60197151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60197151G>A	ENST00000300190.2	+	1	90	c.4G>A	c.(4-6)Gat>Aat	p.D2N	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	2						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACCATCATGGATTCAAGCAC	0.453000													53	77					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863154	55863154	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55863154A>T	ENST00000327335.4	-	1	768	c.769T>A	c.(769-771)Tac>Aac	p.Y257N	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGCTTTATGTAGATAAACATA	0.388000													50	53					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66133980	66133980	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66133980G>A	ENST00000357440.2	-	8	1017	c.789C>T	c.(787-789)gaC>gaT	p.D263D	SLC29A2_ENST00000546034.1_Silent_p.D263D|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Silent_p.D263D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	263					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCTTCTCCAGGTCAAGATCCA	0.567000													17	31					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18841660	18841660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18841660G>A	ENST00000446231.2	-	52	9236	c.8824C>T	c.(8824-8826)Caa>Taa	p.Q2942*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q2942*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2942					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCTCGGTTGGATTAATTCA	0.408000													15	22					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95813448	95813448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:95813448G>A	ENST00000376887.4	-	19	2564	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	ABCC4_ENST00000536256.1_Missense_Mutation_p.P742L|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770L|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	817	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTTACCTATTGGATTTCTATC	0.348000													9	19					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	996897	996897	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:996897G>A	ENST00000453894.1	+	7	1630	c.1542G>A	c.(1540-1542)cgG>cgA	p.R514R	IDUA_ENST00000247933.4_Silent_p.R492R|IDUA_ENST00000514224.1_Silent_p.R360R			P35475	IDUA_HUMAN	iduronidase, alpha-L-	492					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GCCTGGGCCGGCCCGTCTTCC	0.776000													3	6					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72256016	72256016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:72256016C>T	ENST00000305425.4	-	2	1303	c.881G>A	c.(880-882)aGg>aAg	p.R294K	DACH1_ENST00000359684.2_Missense_Mutation_p.R294K|DACH1_ENST00000354591.4_Missense_Mutation_p.R294K|DACH1_ENST00000313174.7_Missense_Mutation_p.R294K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	292	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ACTTTGAGTCCTCTTAGGAGG	0.423000													28	28					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33867794	33867794	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:33867794G>A	ENST00000374450.3	-	5	761	c.497C>T	c.(496-498)tCa>tTa	p.S166L	EIF6_ENST00000374436.3_Missense_Mutation_p.S166L|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.S147L	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	166					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCTTCAATTGAAGTCTTGGG	0.537000													88	112					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33444520	33444520	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33444520C>T	ENST00000305768.4	-	4	581		c.e4+1		CEP89_ENST00000590597.1_Splice_Site	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATAGAAAACACCTGATTTCTG	0.463000													23	490					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389304	56389304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56389304C>T	ENST00000355701.3	-	17	3748	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E900K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E960K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	960						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCCTCTCCCAGCCTGGT	0.652000													11	15					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58862847	58862847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58862847C>T	ENST00000263100.3	-	5	881	c.820G>A	c.(820-822)Gga>Aga	p.G274R	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	274	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TAGTGACCTCCATCCCCCAGG	0.642000													28	46					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													3	26					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825847	52825847	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52825847C>T	ENST00000595962.1	+	5	1410	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	ZNF480_ENST00000335090.6_Silent_p.I371I|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.I405I|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATCTTGTAATCCACACTGGAG	0.408000													34	53					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798563	55798563	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55798563C>T	ENST00000313555.1	+	1	669	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCATCCTCATCACTGTGTTGA	0.458000													54	99					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56351926	56351926	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56351926G>A	ENST00000370754.5	-	87	20929	c.20930C>T	c.(20929-20931)aCc>aTc	p.T6977I	DST_ENST00000244364.6_Missense_Mutation_p.T4385I|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.T6688I|DST_ENST00000421834.2_Missense_Mutation_p.T4711I|DST_ENST00000446842.2_Missense_Mutation_p.T6473I|DST_ENST00000370769.4_Missense_Mutation_p.T6799I|DST_ENST00000370788.2_Missense_Mutation_p.T4602I			Q03001	DYST_HUMAN	dystonin	6797					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCACATATGGTATCCCATTT	0.438000													15	14					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153224146	153224146	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153224146G>A	ENST00000310441.7	-	10	2643	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	HCFC1_ENST00000354233.3_Silent_p.I490I|HCFC1_ENST00000369984.4_Silent_p.I559I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	559					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGGGGGGATCTTCTGGG	0.657000													32	57					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49371299	49371299	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:49371299C>T	ENST00000225298.7	+	12	1596	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	513					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTTCAAACTTCCCAGTCATTA	0.363000													22	32					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107430382	107430382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107430382G>A	ENST00000394872.2	-	23	2129	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	COL4A6_ENST00000538570.1_Missense_Mutation_p.P632L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P632L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P632L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P633L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	633	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTATCTCCAGGAAGCCCACG	0.532000									Alport syndrome with Diffuse Leiomyomatosis				192	231					0	0	1	0	0
HMOX1	3162	broad.mit.edu	37	22	35783126	35783126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:35783126G>A	ENST00000216117.8	+	3	932	c.593G>A	c.(592-594)aGg>aAg	p.R198K		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	198					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GTCAGGCAGAGGGTGATAGAA	0.607000													22	53					0	0	1	0	0
ZNF689	115509	broad.mit.edu	37	16	30621329	30621329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30621329C>T	ENST00000287461.3	-	1	371	c.34G>A	c.(34-36)Gga>Aga	p.G12R	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TTTCCTGGTCCCTGCGCAGGG	0.716000													6	10					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263623	39263623	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:39263623G>A	ENST00000280481.7	+	1	2358	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	714					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTACAGGAATCCCAGC	0.567000													15	27					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684212	109684212	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109684212A>G	ENST00000338432.7	+	39	5649	c.5530A>G	c.(5530-5532)Atg>Gtg	p.M1844V	ACACB_ENST00000543201.1_Missense_Mutation_p.M510V|ACACB_ENST00000377854.5_Missense_Mutation_p.M1774V|ACACB_ENST00000377848.3_Missense_Mutation_p.M1844V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1844	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	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)	GATCAAACACATGTTCCACGT	0.567000													25	69					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317338	203317338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203317338C>T	ENST00000354955.4	-	2	524	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	21					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGTCATCTTCATACTGGGCC	0.572000													26	37					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777860	44777860	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44777860G>A	ENST00000391958.2	+	5	1174	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.R331R	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCCCGGAGCTCCAACC	0.527000													13	32					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6303035	6303035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:6303035G>T	ENST00000344683.5	+	8	1868	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.E550*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.E598*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	598						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTCTACAGAAGAGAAGGAAAA	0.408000													28	44					3.65163e-15	3.71049e-15	1	1	0
GAPVD1	26130	broad.mit.edu	37	9	128124962	128124962	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:128124962C>T	ENST00000470056.1	+	25	4399	c.4239C>T	c.(4237-4239)tcC>tcT	p.S1413S	GAPVD1_ENST00000265956.4_Silent_p.S1432S|GAPVD1_ENST00000495955.1_Silent_p.S1458S|GAPVD1_ENST00000297933.6_Silent_p.S1440S|GAPVD1_ENST00000394105.2_Silent_p.S1467S|GAPVD1_ENST00000394083.2_Silent_p.S1392S|GAPVD1_ENST00000312123.9_Silent_p.S1419S|GAPVD1_ENST00000394104.2_Silent_p.S1458S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1458	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGAGGAGTCCTATTGGTGGA	0.438000													55	33					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683237	100683237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100683237C>T	ENST00000306151.4	+	3	8604	c.8540C>T	c.(8539-8541)gCc>gTc	p.A2847V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2847	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A2847G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACTAAAGCCAGTTCATCT	0.502000													135	295					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896329	56896329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56896329C>T	ENST00000301310.4	-	5	615	c.457G>A	c.(457-459)Gac>Aac	p.D153N	ZNF582_ENST00000586929.1_Missense_Mutation_p.D153N	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GCATGCTGGTCAAAAGTGGGC	0.378000													41	67					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67016551	67016551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:67016551C>T	ENST00000340001.4	-	19	2789	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	ABCA9_ENST00000453985.2_Missense_Mutation_p.E860K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E860K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	860					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)					CTTTTTCTTTCTTTCTTTAAC	0.388000													29	58					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875782	247875782	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247875782T>C	ENST00000302084.2	-	1	323	c.276A>G	c.(274-276)atA>atG	p.I92M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGTAAATGATATGGTCTGAC	0.483000													40	16					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201021714	201021714	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:201021714G>A	ENST00000362061.3	-	32	4150	c.3924C>T	c.(3922-3924)acC>acT	p.T1308T	CACNA1S_ENST00000367338.3_Silent_p.T1289T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1308					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGTGGGAAGGTCTGGAAGT	0.557000													41	53					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411019	63411019	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63411019G>A	ENST00000330258.3	-	2	2420	c.2148C>T	c.(2146-2148)acC>acT	p.T716T	AMER1_ENST00000374869.3_Silent_p.T716T|AMER1_ENST00000403336.1_Silent_p.T716T	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCATCAGGCAGGTACTTTGAT	0.522000													36	36					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17291808	17291808	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17291808C>T	ENST00000595618.1	+	15	2444	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L	MYO9B_ENST00000594824.1_Silent_p.L764L|MYO9B_ENST00000397274.2_Silent_p.L764L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	764	Myosin head-like.				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						GTAGCCTTCTCCAGTCCCTCA	0.612000													23	44					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949552	61949552	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61949552C>T	ENST00000392886.2	-	5	739	c.588G>A	c.(586-588)atG>atA	p.M196I	CSH2_ENST00000560142.1_Missense_Mutation_p.M139I|CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	196					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CGACCTTGTCCATGTCCTTCC	0.562000													46	65					0	0	1	0	0
RPL39	6170	broad.mit.edu	37	X	118920696	118920696	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118920696C>T	ENST00000361575.3	-	3	174		c.e3-1		RPL39_ENST00000468844.1_Splice_Site	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GGAGTTGTACCTACACAGAAA	0.408000													54	66					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660844	40660844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40660844G>A	ENST00000267889.3	+	8	2618	c.2531G>A	c.(2530-2532)tGg>tAg	p.W844*		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	844					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTCCAGCGCTGGATGGAGAGC	0.657000													15	26					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13185136	13185136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:13185136C>T	ENST00000379345.2	+	5	576	c.335C>T	c.(334-336)cCt>cTt	p.P112L	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	51						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGCTTTCCCTGGAGACCAT	0.577000													5	55					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573628	140573628	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140573628C>A	ENST00000239446.4	+	1	1687	c.1503C>A	c.(1501-1503)gcC>gcA	p.A501A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCTCGCCTCCCTGGTCT	0.677000													92	141					1.76565e-42	1.80786e-42	1	1	0
SULF1	23213	broad.mit.edu	37	8	70501299	70501299	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:70501299C>T	ENST00000260128.4	+	8	1374	c.657C>T	c.(655-657)atC>atT	p.I219I	SULF1_ENST00000419716.3_Silent_p.I219I|SULF1_ENST00000458141.2_Silent_p.I219I|SULF1_ENST00000402687.4_Silent_p.I219I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	219					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATGGTGATCAGCCACGCTG	0.468000													20	24					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884975	117884975	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:117884975G>A	ENST00000439649.3	-	5	879	c.512C>T	c.(511-513)aCc>aTc	p.T171I	GFRA1_ENST00000544592.1_Missense_Mutation_p.T55I|GFRA1_ENST00000355422.6_Missense_Mutation_p.T176I|GFRA1_ENST00000369236.1_Missense_Mutation_p.T171I	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	176					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGTGCACGGGGTGATGTACGC	0.582000													19	36					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2201701	2201701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2201701G>A	ENST00000210187.6	+	4	514	c.354G>A	c.(352-354)tgG>tgA	p.W118*	RAB26_ENST00000541451.1_Nonsense_Mutation_p.W52*	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	118					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TGCAGATGTGGGACACAGCTG	0.632000													18	24					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14909102	14909102	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:14909102T>C	ENST00000378372.3	+	11	1253	c.1014T>C	c.(1012-1014)tcT>tcC	p.S338S		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	338					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GTGGAGGGTCTTCTCGAATCC	0.383000													36	68					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573680	52573680	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573680C>T	ENST00000395489.2	-	12	1659	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	A1CF_ENST00000282641.2_Silent_p.G428G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.G420G|A1CF_ENST00000373993.1_Silent_p.G428G|A1CF_ENST00000373995.3_Silent_p.G428G|A1CF_ENST00000395495.1_Silent_p.G373G|A1CF_ENST00000373997.3_Silent_p.G420G|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGAGCTCCATCCCAGGTAAAA	0.458000													36	61					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28904909	28904909	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28904909C>T	ENST00000397358.3	+	9	1673	c.969C>T	c.(967-969)tcC>tcT	p.S323S	HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000444075.1_Silent_p.S323S|HMBOX1_ENST00000355231.5_Silent_p.S323S|HMBOX1_ENST00000287701.10_Silent_p.S323S|HMBOX1_ENST00000558662.1_Silent_p.S323S|HMBOX1_ENST00000524238.1_Silent_p.S323S|HMBOX1_ENST00000519047.1_Silent_p.S323S|HMBOX1_ENST00000523613.1_Silent_p.S323S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	323					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGTTACCTCCCTGAAAGTAT	0.378000													23	38					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548313	50548313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50548313G>A	ENST00000595661.1	+	6	1108	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G193R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G205R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G205R|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	205					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTCAGGAAGGGGAGAAACC	0.463000													33	45					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183220	140183220	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140183220C>T	ENST00000532566.2	+	1	2438	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031497.1	NP_113685.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTTTTTCATTCCTCAAT	0.338000													11	25					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630841	12630841	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12630841C>T	ENST00000228862.2	-	7	1555	c.924G>A	c.(922-924)aaG>aaA	p.K308K	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	308					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGAGTTTGCTCTTTGGCCCTG	0.493000													38	85					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65441106	65441106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:65441106C>T	ENST00000304895.4	-	5	938	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.V270M	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	270					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCATTCGCCACGACTTTGTTT	0.517000													17	60					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174284	207174284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:207174284C>T	ENST00000374423.3	+	5	5418	c.5032C>T	c.(5032-5034)Cac>Tac	p.H1678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1678							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCGAACGACTCACCGACTGCA	0.408000													23	9					0	0	1	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946540	2946540	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2946540G>A	ENST00000396958.3	+	3	470	c.90G>A	c.(88-90)ccG>ccA	p.P30P	FLYWCH2_ENST00000572006.1_Silent_p.P30P|FLYWCH2_ENST00000293981.6_Silent_p.P30P	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	30										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						AAGTCATCCCGGCAGCCCCCA	0.652000													37	54					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752297	76752297	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:76752297C>T	ENST00000575389.2	+	2	306	c.306C>T	c.(304-306)tcC>tcT	p.S102S	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.S102S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCCAGCTCCCCCAGCGAGC	0.766000													7	5					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115047237	115047237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:115047237C>T	ENST00000542447.2	-	9	1330	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	CADM1_ENST00000537058.1_Missense_Mutation_p.G440E|CADM1_ENST00000331581.6_Missense_Mutation_p.G458E|CADM1_ENST00000536727.1_Missense_Mutation_p.G430E|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.G429E	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	429					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTTCTGTCCTCCTTCTGCATT	0.438000													49	85					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79360167	79360167	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:79360167C>T	ENST00000264895.6	+	40	5918	c.5478C>T	c.(5476-5478)atC>atT	p.I1826I	FRAS1_ENST00000325942.6_Silent_p.I1826I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1825					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCATCATGATCACTCCTGCTG	0.398000													67	86					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79655763	79655763	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:79655763G>A	ENST00000329138.4	+	5	456	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	107	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCGTAACAAGATCCTGTACC	0.597000													11	18					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88908345	88908345	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:88908345G>A	ENST00000268695.5	-	3	367	c.279C>T	c.(277-279)atC>atT	p.I93I	GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Intron	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	93						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	AGCCATTGCGGATGGGTAGCC	0.617000													6	8					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964823	34964823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:34964823C>T	ENST00000250156.7	+	5	1273	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	MRM1_ENST00000585770.1_Missense_Mutation_p.P150L	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	345					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCTTCAGGCCCAGAGAAAGAG	0.617000													29	70					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562407	95562407	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95562407A>T	ENST00000526495.1	-	25	5141	c.4850T>A	c.(4849-4851)cTt>cAt	p.L1617H	DICER1_ENST00000343455.3_Missense_Mutation_p.L1617H|DICER1_ENST00000527414.1_Missense_Mutation_p.L1617H|DICER1_ENST00000393063.1_Missense_Mutation_p.L1617H|DICER1_ENST00000541352.1_Missense_Mutation_p.L1617H|DICER1_ENST00000556045.1_Missense_Mutation_p.L515H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1617					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTCACTGAAAGGTTCTTTTG	0.473000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				127	194					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44605296	44605296	+	Silent	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44605296A>C	ENST00000336976.6	+	5	407	c.153A>C	c.(151-153)gcA>gcC	p.A51A		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	51	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GACATCAAGCATTCCACAGGG	0.398000													30	35					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422152	47422152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47422152G>A	ENST00000361866.3	+	32	2201	c.2087G>A	c.(2086-2088)tGg>tAg	p.W696*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	696	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCCTGCAGTGGATGGCGGGC	0.697000													5	3					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830433	43830433	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43830433G>A	ENST00000372458.3	-	5	468	c.351C>T	c.(349-351)tcC>tcT	p.S117S	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.S90S	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	117					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAATGAACTTGGAGAAGAGGA	0.498000													38	42					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113885246	113885246	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:113885246C>T	ENST00000409930.3	+	1	109	c.45C>T	c.(43-45)ctC>ctT	p.L15L	IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000354115.2_Intron	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	15					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TCACTCTCCTCCTCTTCCTGT	0.537000									Lichen Sclerosis et Atrophicus, Familial Clustering of				20	33					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524373	51524373	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51524373G>A	ENST00000371117.3	-	61	10826	c.10551C>T	c.(10549-10551)ccC>ccT	p.P3517P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3517					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAACCAGAGTGGGTGGAATAA	0.443000													14	26					0	0	1	0	0
CCL24	6369	broad.mit.edu	37	7	75442721	75442721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75442721G>A	ENST00000416943.1	-	3	187	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	CCL24_ENST00000222902.2_Missense_Mutation_p.P32S	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	32					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						ATGCAGCAGGGAGAGGGGATG	0.557000													23	67					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942786	144942786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144942786C>T	ENST00000525985.1	-	2	4707	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K				P58107	EPIPL_HUMAN	epiplakin 1	1546						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTCAGCTCGTCCAGCGTC	0.632000													5	6					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70249984	70249984	+	Missense_Mutation	SNP	C	C	T	rs34479874		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:70249984C>T	ENST00000342771.4	+	16	2524	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	735										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAGCAACTTCCTCAACCCTGC	0.517000													39	40					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52794329	52794329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52794329C>T	ENST00000439461.1	+	4	1328	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Missense_Mutation_p.H444Y|ZNF766_ENST00000593612.1_Missense_Mutation_p.H444Y|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CCTTGCAAATCATCAGAGAAT	0.413000													30	48					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889054	76889054	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76889054C>T	ENST00000373344.5	-	18	5170	c.4956_splice	c.e18+1	p.E1652_splice	ATRX_ENST00000395603.3_Splice_Site_p.E1614_splice|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1652	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATAAGTTACCTCAAGCTTCT	0.279000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						34	58					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35994002	35994002	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:35994002G>A	ENST00000297866.5	+	15	2751	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	895										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAGGAAGAGGGATAGCATTTT	0.333000													74	129					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6007209	6007209	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6007209G>A	ENST00000378156.4	-	9	1339	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	358					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAGCTGGAAGATGACCG	0.572000													27	26					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885896	45885896	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45885896G>A	ENST00000418234.2	-	12	2415	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	PPP1R13L_ENST00000360957.5_Silent_p.F779F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	779	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCCCTCGCGGAAGGACAGCT	0.682000													24	30					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120395869	120395869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:120395869C>T	ENST00000602047.1	+	21	2263	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L	PCDP1_ENST00000413369.3_Missense_Mutation_p.P670L			Q4G0U5	PCDP1_HUMAN		670						cilium	calmodulin binding					Colorectal(110;0.196)					GTAATGCATCCTCTGACCTAT	0.463000													68	114					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130378	153130378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153130378C>T	ENST00000370060.1	-	23	3133	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	L1CAM_ENST00000370055.1_Missense_Mutation_p.D977N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D984N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D977N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D984N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D982N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D982N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	982	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGAGATCGGTCAGGTTG	0.622000													110	143					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508178	28508178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:28508178C>T	ENST00000564831.1	+	2	1849	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	APOBR_ENST00000328423.5_Missense_Mutation_p.P597S|APOBR_ENST00000431282.1_Missense_Mutation_p.P597S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	597	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGAGGCAGGTCCCAGGCACGC	0.612000													3	1					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621425	156621425	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156621425G>A	ENST00000329117.4	+	7	1577	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	BCAN_ENST00000361588.5_Missense_Mutation_p.G414E|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	414	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGAGGACGGAGGAGGTGGA	0.562000													41	57					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132549426	132549426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132549426C>T	ENST00000333577.4	+	49	8765	c.8656C>T	c.(8656-8658)Cgg>Tgg	p.R2886W	EP400_ENST00000389561.2_Missense_Mutation_p.R2850W|EP400_ENST00000330386.6_Missense_Mutation_p.R2769W|EP400_ENST00000389562.2_Missense_Mutation_p.R2849W|EP400_ENST00000332482.4_Missense_Mutation_p.R2813W			Q96L91	EP400_HUMAN	E1A binding protein p400	2886					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGTGGCCCGGCTCGTAAG	0.592000													6	18					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194943	203194943	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203194943C>T	ENST00000367229.1	-	3	145	c.111G>A	c.(109-111)ggG>ggA	p.G37G	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.G47G|CHIT1_ENST00000255427.3_Silent_p.G37G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	37					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCGAGCCTCCCCCTGTCTGT	0.582000													15	21					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020183	55020183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:55020183G>A	ENST00000324000.3	+	1	2140	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	36					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCTGAAAAAGGAGAACATCTT	0.592000													29	51					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390208	89390208	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:89390208C>A	ENST00000336596.2	+	4	1182	c.957C>A	c.(955-957)tcC>tcA	p.S319S	EPHA3_ENST00000452448.2_Silent_p.S319S|EPHA3_ENST00000494014.1_Silent_p.S319S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	319	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCTCCATCCATGGCTTGTA	0.438000										TSP Lung(6;0.00050)			36	69					2.51541e-25	2.57239e-25	1	1	0
WIZ	58525	broad.mit.edu	37	19	15535767	15535767	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15535767G>A	ENST00000389282.4	-	8	4470	c.4257C>T	c.(4255-4257)caC>caT	p.H1419H	WIZ_ENST00000545156.1_Silent_p.H733H|WIZ_ENST00000263381.6_Silent_p.H562H|WIZ_ENST00000599910.1_Silent_p.H736H|WIZ_ENST00000599686.2_Silent_p.H603H			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1419						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTGCCGCAGGTGTGCCCGTG	0.667000													7	6					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147744217	147744217	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147744217C>T	ENST00000370460.2	+	3	1448	c.969C>T	c.(967-969)ctC>ctT	p.L323L	AFF2_ENST00000370458.1_Silent_p.L319L|AFF2_ENST00000342251.3_Silent_p.L319L|AFF2_ENST00000370457.5_Silent_p.L319L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	323					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAACACTCTTGGATGGAA	0.433000													55	50					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900209	101900209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101900209C>T	ENST00000374994.4	+	4	760	c.643C>T	c.(643-645)Cga>Tga	p.R215*	TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.R219*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.R146*|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.R138*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	215	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGGCAAAGGTCGATTTGGAGA	0.408000													30	10					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473953	77473953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:77473953G>A	ENST00000560626.2	-	4	791	c.316C>T	c.(316-318)Cga>Tga	p.R106*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R106*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R106*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	106					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										GCTCTGTTTCGGTTCCACCCT	0.423000													59	88					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824805	162824805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162824805C>T	ENST00000367910.1	-	4	779	c.659G>A	c.(658-660)gGg>gAg	p.G220E	C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	220										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCCAGTGTTCCCATCTGGCTT	0.463000													40	36					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257206	105257206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:105257206G>A	ENST00000507740.1	+	18	3075	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	RIMS2_ENST00000436393.2_Missense_Mutation_p.E1151K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1133K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E972K|RIMS2_ENST00000339750.2_Missense_Mutation_p.E69K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1195					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGCCGTGGAAATGAGGAA	0.463000										HNSCC(12;0.0054)			51	86					0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61039979	61039979	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61039979A>G	ENST00000252997.2	-	7	1168	c.1107T>C	c.(1105-1107)ttT>ttC	p.F369F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	369					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGGGGAAGGCAAAGTCCTCAG	0.672000													15	38					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142332	49142332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49142332G>A	ENST00000055335.6	+	4	1196	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E65K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	394						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCCCGCAGAAGAAGGTGATGT	0.607000													17	36					0	0	1	0	0
NHLH2	4808	broad.mit.edu	37	1	116380887	116380887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:116380887G>T	ENST00000369506.1	-	1	5651	c.107C>A	c.(106-108)tCg>tAg	p.S36*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.S36*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	36					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCAGGTCCGACACGCTGCC	0.716000													5	7					0.184627	0.184683	1	1	0
IDO1	3620	broad.mit.edu	37	8	39785653	39785653	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:39785653C>T	ENST00000518237.1	+	10	1800	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	IDO1_ENST00000522495.1_Silent_p.F387F|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	387					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TAATGAATTTCCTGAAGACTG	0.418000													5	9					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643441	37643441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37643441G>A	ENST00000356958.4	-	5	1618	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	ZNF585A_ENST00000292841.5_Missense_Mutation_p.H399Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H399Y|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGAACATGGAGTTGCGAC	0.403000													62	118					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60498647	60498647	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:60498647C>T	ENST00000360469.5	+	10	1601	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	CDH4_ENST00000543233.1_Missense_Mutation_p.P431S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAACGAGGCTCCCTACTTCCC	0.617000													7	24					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680240	6680240	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6680240C>T	ENST00000377648.4	+	3	901	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	173					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGGGACTCCGATACTCCCT	0.587000													11	23					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1424429	1424429	+	Silent	SNP	G	G	A	rs6079152		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:1424429G>A	ENST00000216879.4	-	9	1945	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L362L|NSFL1C_ENST00000350991.4_Silent_p.L362L|NSFL1C_ENST00000353088.2_Silent_p.L329L|NSFL1C_ENST00000381658.4_Silent_p.L249L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	360	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCATTGAGCAGGTTGGCTTCC	0.597000													14	24					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97194428	97194428	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97194428G>A	ENST00000371247.2	-	5	312	c.123C>T	c.(121-123)atC>atT	p.I41I	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Silent_p.I41I|SORBS1_ENST00000361941.3_Silent_p.I41I|SORBS1_ENST00000393949.1_Silent_p.I41I|SORBS1_ENST00000347291.4_Silent_p.I41I|SORBS1_ENST00000371245.3_Silent_p.I41I|SORBS1_ENST00000371227.4_Silent_p.I41I|SORBS1_ENST00000277982.5_Silent_p.I41I|SORBS1_ENST00000354106.3_Silent_p.I41I|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000306402.6_Silent_p.I41I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Silent_p.I41I			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	41					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.I41I(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCACAGGAATGATTTTAACAG	0.463000													16	51					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83159027	83159027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:83159027G>A	ENST00000566620.1	+	4	694	c.404G>A	c.(403-405)aGa>aAa	p.R135K	CDH13_ENST00000565636.1_Missense_Mutation_p.R135K|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000446376.2_Missense_Mutation_p.R135K|CDH13_ENST00000431540.3_Missense_Mutation_p.R135K|CDH13_ENST00000268613.10_Missense_Mutation_p.R182K|CDH13_ENST00000428848.3_Intron	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	135					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCTGTCCCAAGACAAAAGAGG	0.383000													16	17					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532000													33	62					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49247274	49247274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:49247274C>T	ENST00000406846.2	-	3	369	c.250G>A	c.(250-252)Gag>Aag	p.E84K	FSHR_ENST00000346173.3_Missense_Mutation_p.E84K|FSHR_ENST00000304421.4_Missense_Mutation_p.E84K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	84					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTATCACCTCCAAGACATCA	0.403000									Gonadal Dysgenesis, 46 XX				119	179					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33282827	33282827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:33282827G>A	ENST00000373477.4	-	1	927	c.19C>T	c.(19-21)Cct>Tct	p.P7S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	7					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)	TTCTCTTCAGGGCTGGGAGCG	0.657000													51	52					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96093937	96093937	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96093937G>A	ENST00000371361.3	-	21	2500	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	NOC3L_ENST00000543788.1_Intron|NOC3L_ENST00000371350.1_Silent_p.H800H	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	800						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCCTCTACTAGTGTAGTGATG	0.333000													16	36					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140394569	140394569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140394569C>T	ENST00000072869.4	+	8	2025	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	616	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCAGCGAGGCCCTTCCTCCTC	0.622000													39	41					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938939	45938939	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:45938939C>T	ENST00000374391.2	+	11	1580	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	ALOX5_ENST00000542434.1_Silent_p.F509F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	509	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGCAGGACTTCGTGAACGATG	0.687000													15	24					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618799	618799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:618799C>T	ENST00000358353.3	-	14	2082	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G587E			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	587	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGCTGGTTCCCATACTGGG	0.667000													63	121					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807018	233807018	+	Splice_Site	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:233807018T>C	ENST00000366621.3	+	3	921	c.751_splice	c.e3-1	p.C251_splice	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.C135_splice	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	251						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTCACACAGGTTACCTGCTAC	0.423000													22	68					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103695916	103695916	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:103695916A>G	ENST00000548048.1	-	9	1348	c.852T>C	c.(850-852)tcT>tcC	p.S284S	C12orf42_ENST00000548883.1_Silent_p.S351S|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.S351S			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	351										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCACCGGCCTAGAAAGGGCCT	0.537000													80	18					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982492	7982492	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:7982492G>A	ENST00000328600.2	-	2	828	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	223	NACHT.						ATP binding	p.L223F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGAAAAGGAGCTGCTCC	0.547000													20	28					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332448	70332448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:70332448C>T	ENST00000373644.4	+	2	562	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	118					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTCCCAACCCCCACTGGTC	0.458000													33	44					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286732	57286732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57286732C>T	ENST00000391708.3	-	12	1450	c.908G>A	c.(907-909)gGa>gAa	p.G303E	ZIM2_ENST00000593711.1_Missense_Mutation_p.G303E|ZIM2_ENST00000221722.5_Missense_Mutation_p.G303E|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G303E	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGGATCCTTTCCTAGAGGATC	0.453000													26	37					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43056986	43056986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:43056986G>A	ENST00000316099.3	+	9	1230	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	HNF4A_ENST00000415691.1_Missense_Mutation_p.D381N|HNF4A_ENST00000457232.1_Missense_Mutation_p.D359N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					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)			GTCCCCCAGCGATGCACCCCA	0.592000													26	51					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65022213	65022213	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:65022213G>A	ENST00000394156.3	-	7	1299	c.846C>T	c.(844-846)gtC>gtT	p.V282V	CDH11_ENST00000268603.4_Silent_p.V282V|CDH11_ENST00000566827.1_Silent_p.V156V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	282	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCCCAGGGACGGCTGCTT	0.398000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			36	74					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915041	48915041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:48915041C>T	ENST00000294954.7	-	11	1916	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	LHCGR_ENST00000344775.3_Missense_Mutation_p.R570K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	632					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGAAATCTCTTTGGAATGT	0.358000													46	70					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740139	140740139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140740139C>T	ENST00000522605.1	+	1	437	c.437C>T	c.(436-438)aCt>aTt	p.T146I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAATCCACTAAGCCAGGT	0.373000													30	37					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147023718	147023718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147023718G>A	ENST00000265272.5	-	7	1594	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	376						Golgi apparatus		p.S376Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCAGAGATTTTAATTT	0.373000													25	45					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33315221	33315221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:33315221C>T	ENST00000315596.10	+	22	2596	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	804					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTTTAGCTTCCAGGGAAAAA	0.303000													24	50					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721345	56721345	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56721345T>C	ENST00000425394.2	-	6	1098	c.722A>G	c.(721-723)gAc>gGc	p.D241G	PAN2_ENST00000440411.3_Missense_Mutation_p.D241G|PAN2_ENST00000548043.1_Missense_Mutation_p.D241G|PAN2_ENST00000257931.5_Missense_Mutation_p.D241G	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	241					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACATCAAAGTCTGACAGACT	0.488000													25	46					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12817449	12817449	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12817449G>A	ENST00000425528.1	-	14	1788	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	TNPO2_ENST00000592287.1_Silent_p.P477P|TNPO2_ENST00000356861.5_Silent_p.P477P|TNPO2_ENST00000441499.1_Silent_p.P477P|TNPO2_ENST00000588216.1_Silent_p.P477P|TNPO2_ENST00000450764.2_Silent_p.P477P			O14787	TNPO2_HUMAN	transportin 2	477					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCATCAGGGGCTTGAGGT	0.632000													14	25					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54032216	54032216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:54032216G>A	ENST00000373980.4	+	12	1795	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	PRKG1_ENST00000373975.2_Missense_Mutation_p.E163K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.E445K|PRKG1_ENST00000373985.1_Missense_Mutation_p.E433K|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	445	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTAGGTGGAGAGCTCTGGAC	0.343000													26	45					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5782359	5782359	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5782359C>T	ENST00000328090.5	+	13	2851	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	742																	GTGATGACTCCGTTAAGATCA	0.448000													34	45					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217148396	217148396	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:217148396A>G	ENST00000273067.4	-	2	2339	c.573T>C	c.(571-573)ccT>ccC	p.P191P		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	191						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TGATGAGGCAAGGCTGGTGTG	0.587000													23	8					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536395	74536395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74536395C>T	ENST00000321288.5	+	4	700	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	CCDC33_ENST00000398814.3_Missense_Mutation_p.P31S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	234	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCACCTGTCTCCCTCTAAGAA	0.587000													42	47					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175429	112175429	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:112175429A>C	ENST00000457016.1	+	16	4518	c.4138A>C	c.(4138-4140)Acc>Ccc	p.T1380P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1380P|APC_ENST00000257430.4_Missense_Mutation_p.T1380P			P25054	APC_HUMAN	adenomatous polyposis coli	1380	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.L1382fs*4(2)|p.?(1)|p.Q1378fs*5(1)|p.T1380fs*6(1)|p.K1192fs*3(1)|p.T1380fs*5(1)|p.Y1376fs*41(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTTCAGGAGACCCCACTCAT	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	59					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215871	16215871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16215871G>A	ENST00000399408.2	+	25	3635	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1144K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1144	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAAGCGCCTCGAGTCGGTCAG	0.617000													14	32					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110910	55110910	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55110910A>G	ENST00000314721.2	+	1	284	c.234A>G	c.(232-234)aaA>aaG	p.K78K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTCACCCAAATTGATGATAG	0.453000													75	130					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	6					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35453130	35453130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:35453130G>A	ENST00000287272.2	+	4	545	c.525G>A	c.(523-525)atG>atA	p.M175I	UNC5D_ENST00000420357.1_Missense_Mutation_p.M175I|UNC5D_ENST00000404895.2_Missense_Mutation_p.M175I|UNC5D_ENST00000416672.1_Missense_Mutation_p.M175I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M170I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	175	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGAAGGCATGATTGTACTGC	0.517000													42	70					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68207319	68207319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68207319C>T	ENST00000294304.7	+	21	4529	c.4423C>T	c.(4423-4425)Cgg>Tgg	p.R1475W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1475					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTACGACCGGAACCACGT	0.721000													5	5					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698771	21698771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21698771G>A	ENST00000388958.3	+	7	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	146					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522000													44	80					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118971739	118971739	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118971739C>T	ENST00000276201.2	-	10	1352	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	UPF3B_ENST00000345865.2_Missense_Mutation_p.R415K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	428	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TATTCGATCTCTCTTGACCAC	0.378000													35	84					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894352	123894352	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123894352C>T	ENST00000375024.1	+	1	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L211L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTGCTTTCTCCTGATAGTGC	0.567000													41	66					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	803562	803562	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:803562G>A	ENST00000356948.6	+	3	464	c.39_splice	c.e3-1	p.R14_splice	PTBP1_ENST00000394601.4_Splice_Site_p.R14_splice|PTBP1_ENST00000349038.4_Splice_Site_p.R14_splice|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	14					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTGCAGCGGGGATCTGAC	0.632000													29	18					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224958	206224958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:206224958C>T	ENST00000367126.4	+	1	983	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652000													20	34					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132098220	132098220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:132098220G>A	ENST00000296873.7	-	5	935	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	SEPT8_ENST00000458488.2_Missense_Mutation_p.P218S|SEPT8_ENST00000448933.1_Missense_Mutation_p.P158S|SEPT8_ENST00000378699.2_Missense_Mutation_p.P158S|SEPT8_ENST00000378706.1_Missense_Mutation_p.P218S|SEPT8_ENST00000378701.1_Missense_Mutation_p.P216S|SEPT8_ENST00000378719.2_Missense_Mutation_p.P218S|SEPT8_ENST00000378721.4_Missense_Mutation_p.P216S	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	218					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCCGTGGGGAACTGGTAG	0.582000													17	44					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10625548	10625548	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:10625548G>A	ENST00000254958.5	-	18	2822	c.2307C>T	c.(2305-2307)gtC>gtT	p.V769V	JAG1_ENST00000423891.2_Silent_p.V610V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	769	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTTCCTTGCAGACGCACGTAA	0.592000									Alagille Syndrome				87	124					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977792	107977792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107977792C>T	ENST00000372129.2	-	1	1859	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	595						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						TTCCCACTTCCTGAGCCTTTG	0.537000													107	195					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55820079	55820079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55820079C>T	ENST00000309383.1	+	18	2439	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	BRSK1_ENST00000326848.7_Missense_Mutation_p.S416F|BRSK1_ENST00000590333.1_Missense_Mutation_p.S737F	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	721					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GACCAGCCCTCCGTGCAGGCC	0.721000													9	15					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99456351	99456351	+	Silent	SNP	C	C	T	rs45481994		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:99456351C>T	ENST00000268035.6	+	8	2279	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	IGF1R_ENST00000558762.1_Silent_p.L556L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	556	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGTGGACCTCCCGCCCAACA	0.547000													28	30					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11845266	11845266	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11845266C>T	ENST00000396516.2	-	22	3020	c.2823G>A	c.(2821-2823)aaG>aaA	p.K941K	ZC3H7A_ENST00000575984.1_Silent_p.K137K|ZC3H7A_ENST00000355758.4_Silent_p.K941K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	941						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGAGCTTCATCTTTAGGGCAT	0.363000													23	32					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418193	48418193	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48418193C>T	ENST00000376771.4	+	6	1238	c.897C>T	c.(895-897)caC>caT	p.H299H	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.H45H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	299	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACCGGGCCCACCCCTACTATG	0.637000													13	38					0	0	1	0	0
UBXN8	7993	broad.mit.edu	37	8	30620834	30620834	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:30620834G>A	ENST00000519246.1	+	0	814							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						ATGTCCTGAGGAGAAGGTTTT	0.408000													11	30					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718947	140718947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140718947G>A	ENST00000394576.2	+	1	409	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTAGAGGAACTGGAGCT	0.418000													30	49					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112424024	112424024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:112424024C>T	ENST00000312814.5	-	2	1417	c.857G>A	c.(856-858)aGa>aAa	p.R286K	TMEM168_ENST00000454074.1_Missense_Mutation_p.R286K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	286						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GTGAGTGTCTCTAAGTTTGAA	0.343000													85	172					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102270264	102270264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:102270264G>A	ENST00000370103.4	-	6	1120	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.L323F|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	323	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CGTTGGGCAAGCACTCTCCCC	0.438000													19	33					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152077	11152077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11152077C>T	ENST00000358026.2	+	31	4645	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F	SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1392F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1392F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1389F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1422F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1389F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1422F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1422					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCGGCTCCTCCACCCCGACC	0.647000			"""F, N, Mis"""		NSCLC								19	11					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101776514	101776514	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:101776514C>T	ENST00000334289.3	-	4	901	c.306G>A	c.(304-306)atG>atA	p.M102I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	102					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTTGCTCATCCATCATATTCC	0.303000													12	17					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283227	52283227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52283227G>A	ENST00000301190.6	+	4	825	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G65R	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	65										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGACCAGCGGGGGCTCACGGC	0.657000													25	37					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40675132G>A	ENST00000416151.2	+	1	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CTAGCTACCGGAAGTTTCTAT	0.577000													34	38					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876799	38876799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38876799C>T	ENST00000334928.6	-	3	1235	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCGCCAGCCCCGTTGAAGCG	0.697000													3	9					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31015183	31015183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31015183C>T	ENST00000399914.1	-	7	1582	c.1061G>A	c.(1060-1062)tGg>tAg	p.W354*	GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	354					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCGAGGCGCCATGGCTTATG	0.582000													30	14					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50131164	50131164	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50131164A>T	ENST00000347869.3	+	4	370	c.195A>T	c.(193-195)gaA>gaT	p.E65D	RBM5_ENST00000469838.1_Missense_Mutation_p.E65D	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	65					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGAGCGTGAAAGAAGGAACA	0.443000													44	88					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654655	99654655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:99654655C>T	ENST00000292450.4	+	2	190	c.26C>T	c.(25-27)gCc>gTc	p.A9V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A9V|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A9V|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTAGGCATGGCCCCAGTTCTG	0.527000													72	171					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75530092	75530092	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:75530092G>A	ENST00000339365.2	+	22	3079	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	SEC24C_ENST00000540668.1_Missense_Mutation_p.E221K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E221K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.E854K|SEC24C_ENST00000345254.4_Missense_Mutation_p.E973K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	973					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGCCTCTGAAGAGCGTCTAAG	0.493000													118	152					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232399	58232399	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58232399T>C	ENST00000317398.6	-	4	1150	c.1055A>G	c.(1054-1056)cAa>cGa	p.Q352R	ZNF671_ENST00000335820.3_Missense_Mutation_p.Q254R|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		GCCGGAGATTTGTCTAAAGAA	0.443000													25	43					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928829	4928829	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4928829C>T	ENST00000359350.4	+	1	230	c.230C>T	c.(229-231)tCc>tTc	p.S77F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S77Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTCTCCTCCCTTCCTACC	0.453000													41	58					0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	536323	536323	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536323C>A	ENST00000215574.4	+	3	563	c.345C>A	c.(343-345)aaC>aaA	p.N115K		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	115					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGTGGAACCCCACGCAGA	0.642000													7	4					2.17888e-05	2.18805e-05	1	1	0
CLTC	1213	broad.mit.edu	37	17	57760370	57760370	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:57760370T>G	ENST00000269122.3	+	24	4142	c.3868T>G	c.(3868-3870)Tat>Gat	p.Y1290D	CLTC_ENST00000393043.1_Missense_Mutation_p.Y1290D|CLTC_ENST00000579456.1_Missense_Mutation_p.Y227D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCAACTACTATCAGGTATT	0.368000			T	"""ALK, TFE3"""	"""ALCL, renal """								33	45					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62232279	62232279	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62232279G>A	ENST00000258991.3	-	9	2958	c.2874C>T	c.(2872-2874)tcC>tcT	p.S958S	TEX2_ENST00000584379.1_Silent_p.S951S|TEX2_ENST00000583097.1_Silent_p.S951S|TEX2_ENST00000581812.1_5'UTR			Q8IWB9	TEX2_HUMAN	testis expressed 2	951					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCCAGCGCTGGAGGATTCCT	0.627000													24	36					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2308919	2308919	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2308919T>A	ENST00000381458.5	+	9	1304	c.1241T>A	c.(1240-1242)gTg>gAg	p.V414E		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	414					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AAGAATTCCGTGAACAGTCAC	0.542000													34	38					0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232649	12232649	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12232649T>C	ENST00000266434.4	+	2	605	c.410T>C	c.(409-411)gTg>gCg	p.V137A	BCL2L14_ENST00000586576.1_Missense_Mutation_p.V170A|BCL2L14_ENST00000308721.5_Missense_Mutation_p.V137A|BCL2L14_ENST00000396369.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000589718.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000396367.1_Missense_Mutation_p.V137A	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	137					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CTTTCTAACGTGGAGCAGTGC	0.522000													45	85					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095284	167095284	+	Missense_Mutation	SNP	G	G	A	rs139690458		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167095284G>A	ENST00000361200.2	+	6	1082	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGCATGCTCGGGGCCAGAGT	0.657000													6	14					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486462	133486462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133486462C>T	ENST00000409261.1	-	18	5880	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E	NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1836							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAGCATATCCGAATGATGA	0.542000													89	137					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60498648	60498648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:60498648C>T	ENST00000360469.5	+	10	1602	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L	CDH4_ENST00000543233.1_Missense_Mutation_p.P431L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AACGAGGCTCCCTACTTCCCC	0.622000													8	24					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255103	51255103	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:51255103G>A	ENST00000404971.1	-	2	1648	c.309C>T	c.(307-309)ctC>ctT	p.L103L	NRXN1_ENST00000405472.3_Silent_p.L103L|NRXN1_ENST00000401669.2_Silent_p.L103L|NRXN1_ENST00000405581.1_Silent_p.L103L|NRXN1_ENST00000402717.3_Silent_p.L103L|NRXN1_ENST00000406859.3_Silent_p.L103L|NRXN1_ENST00000406316.2_Silent_p.L103L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	103	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGTCGGCCAGGAGCGTCGCAG	0.662000													11	17					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904541	37904541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37904541G>A	ENST00000316950.6	-	6	1576	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZNF569_ENST00000392149.2_Missense_Mutation_p.S340F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S181F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAGCAAGGGATGCAATTCG	0.388000													44	84					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488040	24488040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488040C>T	ENST00000264463.4	-	12	2606	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAGGAGTCCTCCGAGGAAT	0.493000										HNSCC(23;0.051)			33	43					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129110	6129110	+	Silent	SNP	C	C	T	rs142825875		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6129110C>T	ENST00000316529.3	+	1	197	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGCTCTCCCTGCCCCTGA	0.502000													22	35					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15124552	15124552	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15124552G>A	ENST00000292574.3	+	2	721	c.639G>A	c.(637-639)atG>atA	p.M213I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	213					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAGGAAAATGGAGAGAGATA	0.498000													8	20					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22990141	22990141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:22990141C>T	ENST00000313077.7	+	24	2886	c.2761C>T	c.(2761-2763)Ctc>Ttc	p.L921F	CYFIP1_ENST00000560848.1_Missense_Mutation_p.L921F|CYFIP1_ENST00000435939.2_Missense_Mutation_p.L490F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	921					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTGCCGGCTTCTCGGCTACCA	0.557000													31	35					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661199	145661199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145661199G>A	ENST00000409379.3	-	17	2646	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	873					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTCGGGCACGGGGCCTGCTC	0.697000													47	84					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58758137	58758137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58758137G>A	ENST00000269829.4	+	6	695	c.221G>A	c.(220-222)aGg>aAg	p.R74K	ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Missense_Mutation_p.R74K|ZNF544_ENST00000596825.1_Silent_p.Q62Q|ZNF544_ENST00000333581.5_Missense_Mutation_p.R74K|ZNF544_ENST00000599227.1_Silent_p.Q62Q|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Missense_Mutation_p.R74K|ZNF544_ENST00000594384.1_Silent_p.Q62Q|ZNF544_ENST00000596652.1_Missense_Mutation_p.R74K|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GACCTGTGCAGGGCAGAGCAG	0.567000													25	56					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193940	62193940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62193940G>A	ENST00000467148.1	-	8	6304	c.6235C>T	c.(6235-6237)Ccg>Tcg	p.P2079S	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1510S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		ACCTCTTCCGGAACCTTCTCC	0.662000													5	9					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505527	18505527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18505527C>T	ENST00000536719.1	-	8	867	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	TSG101_ENST00000357193.3_Missense_Mutation_p.E140K|TSG101_ENST00000251968.3_Missense_Mutation_p.E245K			Q99816	TS101_HUMAN	tumor susceptibility 101	245					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CGATCCATTTCCTCCTTCATC	0.522000													79	204					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791282	209791282	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:209791282G>A	ENST00000391911.1	-	19	3410	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	LAMB3_ENST00000356082.4_Silent_p.S1007S|LAMB3_ENST00000367030.3_Silent_p.S1007S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1007	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TAAGCCGAAGGGAGCGGCTGG	0.567000													19	53					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97861194	97861194	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:97861194G>A	ENST00000447648.2	-	13	2195	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	TECPR1_ENST00000379795.3_Silent_p.A633A|TECPR1_ENST00000542604.1_Silent_p.A562A			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	632	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCTCCAGGGCCAAGCGCA	0.662000													27	40					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130155	45130155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:45130155G>A	ENST00000457685.2	-	6	3032	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	ZNF334_ENST00000593880.1_Missense_Mutation_p.S631F|ZNF334_ENST00000347606.4_Missense_Mutation_p.S608F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGGCAGAAGGATTTCCCACA	0.428000													41	75					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													60	100					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749464	51749464	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51749464G>A	ENST00000395052.3	+	4	1909	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	559					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACTGCCCCAGGAGTACATCCG	0.622000													30	40					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884423	24884423	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:24884423C>T	ENST00000382554.3	+	9	3786	c.3468C>T	c.(3466-3468)tcC>tcT	p.S1156S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1156					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCCAACTCCCAGCTGCCCT	0.647000													23	50					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596463	39596463	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39596463C>T	ENST00000246646.3	-	2	524	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	175	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTTGTACAATCAGCCTGGCAT	0.547000													15	22					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128415076	128415076	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:128415076G>A	ENST00000409455.1	-	2	692	c.57C>T	c.(55-57)ccC>ccT	p.P19P	LIMS2_ENST00000409808.2_Silent_p.P19P|LIMS2_ENST00000355119.4_Silent_p.P24P|LIMS2_ENST00000545738.2_Silent_p.P46P|LIMS2_ENST00000324938.5_Silent_p.P48P|LIMS2_ENST00000410011.1_Silent_p.P19P			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	24	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCGCTCGGCGGGGGAGAAGC	0.637000													53	62					0	0	1	0	0
GPR157	80045	broad.mit.edu	37	1	9188805	9188805	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9188805G>A	ENST00000377411.4	-	1	424	c.282C>T	c.(280-282)ttC>ttT	p.F94F	GPR157_ENST00000414642.2_Silent_p.F94F	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	94						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGTCCAGAAGAAGGAGCTGG	0.652000													10	11					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691187	129691187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129691187C>T	ENST00000358303.4	-	1	104	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7E|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	7					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAACGCTTGTCCCTCACAGGG	0.577000													24	61					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83334306	83334306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:83334306C>T	ENST00000261722.3	-	16	2081	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	AP3B2_ENST00000535359.1_Missense_Mutation_p.G625D|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G593D	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	625					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGACAGTGAGCCCAGCTGGAA	0.612000													34	51					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3730584	3730584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:3730584G>A	ENST00000252505.3	+	7	593	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	163							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CTTAAGCCAGGAAACCCTGCT	0.413000										HNSCC(21;0.051)			74	111					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971499	101971499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101971499C>T	ENST00000543253.1	+	5	2621	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.R568*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.R568*	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.R568*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCGGGAAATTCGAGAGCATCT	0.483000													65	93					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797634	76797634	+	Missense_Mutation	SNP	G	G	A	rs138339033		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:76797634G>A	ENST00000286719.7	-	11	1482	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	376	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCGCTGCAGGGGATGCTGGAG	0.657000													11	16					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94103625	94103625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94103625G>A	ENST00000553484.1	+	34	6117	c.5963G>A	c.(5962-5964)gGa>gAa	p.G1988E	UNC79_ENST00000256339.4_Missense_Mutation_p.G1789E|UNC79_ENST00000555664.1_Missense_Mutation_p.G1927E|UNC79_ENST00000393151.2_Missense_Mutation_p.G1966E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1966						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						gacctggagggacagccattg	0.502000													23	41					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577000													60	75					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115350198	115350198	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:115350198A>G	ENST00000357872.4	+	16	2548	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		808					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTTTTCGCAAAATGGGTGG	0.368000													22	36					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416043	30416043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30416043G>A	ENST00000333027.3	+	17	2723	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	MTMR3_ENST00000401950.2_Missense_Mutation_p.E799K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E799K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E799K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E663K	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	799					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTTTCGAATAGAAGAGATTGC	0.527000													36	41					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624347	123624347	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123624347C>T	ENST00000327930.2	-	1	906	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCTTCACCTCCTTGTTTCTA	0.403000													45	54					0	0	1	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083436	107083436	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:107083436G>A	ENST00000455737.1	-	0	207																											GGGGCTGCCGGATCCAGCTCC	0.572000													43	60					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360624	1360624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:1360624C>T	ENST00000311401.5	+	5	886	c.500C>T	c.(499-501)tCa>tTa	p.S167L	MUM1_ENST00000344663.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000415183.3_Missense_Mutation_p.S236L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	235					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;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)		TCTTCCCTTTCAGAGGACGAC	0.577000													34	19					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114267235	114267235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:114267235G>A	ENST00000519065.1	-	9	1295	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	HDAC2_ENST00000398283.2_Missense_Mutation_p.R401C|HDAC2_ENST00000519108.1_Missense_Mutation_p.R277C|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277C			Q92769	HDAC2_HUMAN	histone deacetylase 2	307	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCAACATTACGGATTGTGTAG	0.378000													51	39					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136133	104136133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:104136133G>A	ENST00000369983.3	+	31	4248	c.3988G>A	c.(3988-3990)Ggc>Agc	p.G1330S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1330					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGGCAGGCCGGGCAAGATACA	0.537000													43	68					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150751520	150751520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150751520G>A	ENST00000485972.1	-	10	1364	c.683C>T	c.(682-684)cCc>cTc	p.P228L	CDK5_ENST00000297518.4_Missense_Mutation_p.P196L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	228	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		GGTCATAGAGGGCCACTGCTC	0.597000													19	34					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760065	115760065	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:115760065C>T	ENST00000427548.1	-	0	1748							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGGTTTTTCCACATTCAGTA	0.398000													30	8					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985161	72985161	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:72985161G>A	ENST00000305632.5	-	7	1261	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.S304S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	340										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCGTTGGGGGAGAGGGCCA	0.617000													44	90					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290619	62290619	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:62290619G>A	ENST00000378024.4	-	5	11544	c.11270C>T	c.(11269-11271)cCc>cTc	p.P3757L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3757					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)				CTTGACTTTGGGGCCCTTCAG	0.468000													64	86					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626530	1626530	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1626530C>T	ENST00000421627.2	+	9	2333	c.2199C>T	c.(2197-2199)acC>acT	p.T733T	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	812					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCACCCCCACCCAGTACAGCG	0.627000													17	32					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214525	11214525	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11214525C>A	ENST00000533467.1	-	1	368	c.369G>T	c.(367-369)agG>agT	p.R123S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	123					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)		TCTTAACTCTCCTCTTTAAGT	0.353000													36	56					6.84511e-11	6.91549e-11	1	1	0
ZCCHC18	644353	broad.mit.edu	37	X	103359851	103359851	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:103359851C>T	ENST00000537356.2	+	1	1049	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	350							nucleic acid binding|zinc ion binding										ACCCGCTGTTCATATTGTGGG	0.493000													6	12					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488354	103488354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103488354G>A	ENST00000358392.2	-	8	1542	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.P397S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P358S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	397	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTCATTAGGGGGGCTTGTT	0.363000													20	47					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412608	154412608	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:154412608G>A	ENST00000428397.2	+	3	1361	c.1165G>A	c.(1165-1167)Gta>Ata	p.V389I	OPRM1_ENST00000414028.2_Splice_Site|OPRM1_ENST00000435918.2_Splice_Site|OPRM1_ENST00000337049.4_Splice_Site|OPRM1_ENST00000522555.1_Splice_Site|OPRM1_ENST00000419506.2_Splice_Site|OPRM1_ENST00000360422.4_Splice_Site|OPRM1_ENST00000520708.1_Splice_Site|OPRM1_ENST00000522236.1_Splice_Site|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000330432.7_Splice_Site|OPRM1_ENST00000434900.2_Splice_Site|OPRM1_ENST00000524163.1_Splice_Site|OPRM1_ENST00000518759.1_Splice_Site|OPRM1_ENST00000229768.5_Splice_Site	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	389					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TAATCATCAGGTACGCAGTCT	0.403000													15	14					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324490	31324490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:31324490C>T	ENST00000269197.5	+	12	4678	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAAGTCTCCGAGAATTACC	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9662281	9662281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9662281G>A	ENST00000340305.5	+	6	1120	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	TMEM201_ENST00000377376.4_Missense_Mutation_p.A371T|TMEM201_ENST00000340381.6_Missense_Mutation_p.A371T	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	371						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCACGGCGGCTGTGGCCAC	0.652000													20	16					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37688263	37688263	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37688263C>T	ENST00000315215.7	+	7	1117	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	GPR124_ENST00000412232.2_Missense_Mutation_p.P252S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	252	Ig-like.				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)			CCACCTCATCCCGTCCCTACG	0.657000													6	9					0	0	1	0	0
MIR145	406937	broad.mit.edu	37	5	148810267	148810267	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148810267C>T	ENST00000384967.1	+	0	59					NR_029686.1																						GATGGGGATTCCTGGAAATAC	0.577000											OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	12					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:15835885A>G	ENST00000226279.2	+	4	682	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	182					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388000													14	56					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910064	184910064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:184910064G>A	ENST00000231887.3	-	7	2197	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	EHHADH_ENST00000456310.1_Missense_Mutation_p.P612S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	708						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCTTTCAGGGGAGGGTTTCCC	0.448000													29	63					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95347060	95347060	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95347060C>T	ENST00000371483.4	+	4	884	c.828C>T	c.(826-828)ttC>ttT	p.F276F	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.F260F	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		AGCAGGACTTCCGGCTCTTCC	0.547000													43	63					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760001	115760001	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:115760001G>A	ENST00000427548.1	-	0	1812							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ACACTGGTAGGATTTTTCCTC	0.403000													31	9					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937429	178937429	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:178937429A>G	ENST00000263967.3	+	12	1974	c.1817A>G	c.(1816-1818)tAc>tGc	p.Y606C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	606	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GACTGTAATTACCCAGATCCT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	32					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40313665	40313665	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40313665C>T	ENST00000316891.5	-	6	822	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Silent_p.R3R|TRIT1_ENST00000537223.1_Silent_p.R3R|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_Missense_Mutation_p.E24K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E188K|TRIT1_ENST00000372818.1_Missense_Mutation_p.E270K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	270					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACCTATTTTCCGAAACATTC	0.423000													14	29					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520154	176520154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176520154G>A	ENST00000292408.4	+	9	1318	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	358					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GACCCCACATGGACCGCAGCA	0.642000										TSP Lung(9;0.080)			14	16					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866937	103866937	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:103866937G>A	ENST00000302251.5	-	3	799	c.348C>T	c.(346-348)acC>acT	p.T116T	PDGFD_ENST00000393158.2_Silent_p.T122T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	122	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TAATGGTACTGGTTTCGGATA	0.338000													16	33					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028010	44028010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44028010G>A	ENST00000262726.7	-	19	2460	c.2207C>T	c.(2206-2208)cCt>cTt	p.P736L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P584L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGCCTCCTAGGGAAAAGCTT	0.567000													49	82					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34512014	34512014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:34512014C>T	ENST00000374037.3	-	2	633	c.219G>A	c.(217-219)tgG>tgA	p.W73*	SPDEF_ENST00000544425.1_Nonsense_Mutation_p.W73*	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	73					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCTTGGCTGCCCAGCTGCTGT	0.672000													26	8					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5238951	5238951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:5238951G>A	ENST00000372412.4	-	13	2064	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PTPRS_ENST00000587303.1_Missense_Mutation_p.R610W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R597W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R597W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R606W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R610W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R597W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R597W|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	610	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTGCGCTGCCGCACCACGGGG	0.721000													19	17					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800800	35800800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35800800C>T	ENST00000342694.2	+	6	1568	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	438					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GACAATCCCCCCTGTGCCTTT	0.582000													29	17					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202677255	202677255	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:202677255G>A	ENST00000450471.2	+	4	504	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CDK15_ENST00000434439.1_Missense_Mutation_p.E140K|CDK15_ENST00000374598.4_Missense_Mutation_p.E140K|CDK15_ENST00000260967.2_Missense_Mutation_p.E89K|CDK15_ENST00000410091.3_Missense_Mutation_p.E89K|CDK15_ENST00000488419.1_3'UTR	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	140	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAATGCAGAGGAAGGAGTCCC	0.408000													37	52					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125478115	125478115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125478115C>T	ENST00000392708.4	+	9	1051	c.892C>T	c.(892-894)Ctt>Ttt	p.L298F	STT3A_ENST00000531491.1_Missense_Mutation_p.L206F|STT3A_ENST00000529196.1_Missense_Mutation_p.L298F	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	298					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATTTGAAGTTCTTTTCCGGAG	0.498000													39	71					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155188	12155188	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12155188T>A	ENST00000602107.1	-	5	1168	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	ZNF878_ENST00000547628.1_Missense_Mutation_p.K343I|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTTCACACATTTTTTACATTC	0.388000													21	43					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107823795	107823795	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107823795T>G	ENST00000328300.6	+	14	1057	c.813T>G	c.(811-813)ccT>ccG	p.P271P	COL4A5_ENST00000361603.2_Silent_p.P271P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	271	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCTGGACCTCCAGGGATAC	0.433000									Alport syndrome with Diffuse Leiomyomatosis				46	85					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448716	91448716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91448716G>A	ENST00000360468.3	+	2	386	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R123Q	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	123					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGGGGGGCCGGGGTCAGAAG	0.632000													15	19					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069075	205069075	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205069075G>A	ENST00000264515.6	-	8	1011	c.870C>T	c.(868-870)ctC>ctT	p.L290L	RBBP5_ENST00000367164.1_Silent_p.L290L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	290					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCGTCCCATGGAGAATCTTCA	0.463000													37	110					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27369165	27369165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:27369165G>A	ENST00000244576.4	+	3	1561	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATGACTGTGGAAAAGCCTTC	0.403000													27	17					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961241	51961241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51961241C>T	ENST00000321424.3	-	1	467	c.401G>A	c.(400-402)aGt>aAt	p.S134N	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S134N|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S134N	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	134					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGATTTGTAACTCCATTTCAT	0.502000													43	87					0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42383095	42383095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42383095C>T	ENST00000221972.3	+	2	300	c.115C>T	c.(115-117)Cca>Tca	p.P39S	CD79A_ENST00000444740.2_Missense_Mutation_p.P39S	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	39	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACAAGGTCCCAGCATCATT	0.632000			"""O, S"""		DLBCL								21	33					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088500	92088500	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92088500G>A	ENST00000298047.6	+	1	3239	c.3222G>A	c.(3220-3222)agG>agA	p.R1074R	FAT3_ENST00000541502.1_Silent_p.R1074R|FAT3_ENST00000525166.1_Silent_p.R924R|FAT3_ENST00000409404.2_Silent_p.R1074R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1074	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCCGGAAGGGATGGAGAGA	0.478000										TCGA Ovarian(4;0.039)			19	25					0	0	1	0	0
RAB41	347517	broad.mit.edu	37	X	69502097	69502097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69502097G>A	ENST00000374473.2	+	1	76	c.30G>A	c.(28-30)tgG>tgA	p.W10*	RAB41_ENST00000276066.4_Nonsense_Mutation_p.W10*			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						ACGAGGCCTGGATGGAGGCCG	0.572000													36	54					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40879703	40879703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40879703G>A	ENST00000428826.2	-	4	317	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	EZH1_ENST00000590078.1_5'UTR|EZH1_ENST00000592743.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.Q66*|EZH1_ENST00000435174.1_Missense_Mutation_p.P7L			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	66					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAACAGGTTGGACACGAAGC	0.423000													33	54					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207165	132207165	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:132207165C>T	ENST00000260818.6	+	30	3539	c.3291C>T	c.(3289-3291)atC>atT	p.I1097I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1097				I -> T (in Ref. 6; BAC86133).			heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGACCCTATCCTTGTTGAGA	0.338000													20	36					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010871	59010871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59010871C>T	ENST00000263093.2	-	7	1764	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468E	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAAGGTGTCCCCGAGGCGGTC	0.667000													15	23					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44022347	44022347	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44022347T>C	ENST00000262726.7	-	20	2698	c.2445A>G	c.(2443-2445)gaA>gaG	p.E815E	EFCAB6_ENST00000396231.2_Silent_p.E663E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTGAGGCGCTTCATCTGTTC	0.478000													10	32					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859793	176859793	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176859793C>T	ENST00000355472.5	+	5	594	c.426C>T	c.(424-426)ttC>ttT	p.F142F	GRK6_ENST00000528793.1_Silent_p.F142F|GRK6_ENST00000355958.5_Silent_p.F142F|GRK6_ENST00000393576.3_Silent_p.F142F|GRK6_ENST00000507633.1_Silent_p.F142F	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	142	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AAGACCTTTTCCAGGAACTCA	0.637000													5	13					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110783811	110783811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110783811C>T	ENST00000395494.2	+	18	3229	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCAGCTTGTCCGAAAACCAG	0.572000													29	84					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40961128	40961128	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40961128C>T	ENST00000372706.1	+	6	1984	c.978C>T	c.(976-978)ccC>ccT	p.P326P	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.P326P					ZFP69 zinc finger protein																		GTGAGAAACCCTTTGAATGTG	0.433000													26	24					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596622	24596622	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:24596622C>T	ENST00000535378.1	-	4	895	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	94	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGATGGGGCCCATCTTCTTG	0.597000													26	19					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401082	10401082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10401082G>A	ENST00000226207.5	-	31	4428	c.4334C>T	c.(4333-4335)gCc>gTc	p.A1445V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1445			A -> T (in a breast cancer sample; somatic mutation).			muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTGTCCAGGGCGGCACAGGC	0.448000													34	68					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436580	66436580	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:66436580G>A	ENST00000341529.3	+	12	2011	c.1863G>A	c.(1861-1863)cgG>cgA	p.R621R	CDH5_ENST00000539168.1_Silent_p.R60R	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	621					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTTCCTGCGGCGGCGGCTCC	0.706000													9	7					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805801	169805801	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:169805801G>A	ENST00000274629.4	-	4	925	c.483C>T	c.(481-483)ctC>ctT	p.L161L	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	161					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGGCCAGAAGAGGGAGAAGA	0.607000													33	27					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58758138	58758138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58758138G>A	ENST00000599227.1	+	6	771	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Silent_p.R74R|ZNF544_ENST00000596825.1_Missense_Mutation_p.G63S|ZNF544_ENST00000333581.5_Silent_p.R74R|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Silent_p.R74R|ZNF544_ENST00000269829.4_Silent_p.R74R|ZNF544_ENST00000594384.1_Missense_Mutation_p.G63S|ZNF544_ENST00000596652.1_Silent_p.R74R|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACCTGTGCAGGGCAGAGCAGG	0.572000													25	56					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797757	148797757	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148797757G>A	ENST00000355220.5	+	5	713	c.611G>A	c.(610-612)gGg>gAg	p.G204E	MAGEA11_ENST00000333104.4_Missense_Mutation_p.G175E	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	204						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAAAAGGAGGGGCCAAGTACC	0.498000													64	58					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55175835	55175835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55175835C>T	ENST00000421030.2	+	24	4232	c.3947C>T	c.(3946-3948)tCc>tTc	p.S1316F	MROH7_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Missense_Mutation_p.S834F|MROH7_ENST00000409996.1_Missense_Mutation_p.S884F	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7																		GCACTGGGCTCCTGGAAGATG	0.592000													7	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596984	179596984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179596984G>A	ENST00000589042.1	-	57	16936	c.16712C>T	c.(16711-16713)cCt>cTt	p.P5571L	TTN_ENST00000342992.6_Missense_Mutation_p.P4327L|TTN_ENST00000591111.1_Missense_Mutation_p.P5254L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5254	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAATTGGAGGGGTACCAGT	0.428000													33	87					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671662	30671662	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30671662G>A	ENST00000376406.3	-	10	5945	c.5298C>T	c.(5296-5298)tcC>tcT	p.S1766S	MDC1_ENST00000376405.2_Silent_p.S1502S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1766	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGCTGTAAGGGATTCAGCTG	0.532000								Other conserved DNA damage response genes					30	24					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	724563	724563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:724563G>A	ENST00000584307.1	-	12	1663	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L	YES1_ENST00000577961.1_Missense_Mutation_p.P503L|YES1_ENST00000314574.4_Missense_Mutation_p.P498L			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	498	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GAGGGATTCTGGACAGCCCTG	0.418000													32	41					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157545400	157545400	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157545400C>T	ENST00000271532.1	-	12	1597	c.1461_splice	c.e12-1	p.D488_splice	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	488						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACTGAGACATCCTGAAATGGA	0.428000													11	47					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727789	36727789	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36727789C>T	ENST00000456324.1	+	3	1896	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Silent_p.I149I	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	149					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					ATGAGAAAATCCATATTGGAG	0.423000													27	36					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106668031	106668031	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106668031C>T	ENST00000390606.2	-	0	64																											GCCCAAACTCCATGGCGAGTC	0.507000													62	95					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981200	121981200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:121981200G>A	ENST00000498619.1	+	4	1756	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	CASR_ENST00000296154.5_Missense_Mutation_p.G440R|CASR_ENST00000490131.1_Missense_Mutation_p.G440R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	440					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCTTACCTGGGAGAGGGCT	0.448000													37	56					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106891979	106891979	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:106891979T>C	ENST00000286398.7	+	21	3132	c.2844T>C	c.(2842-2844)ttT>ttC	p.F948F	SMC2_ENST00000303219.8_Silent_p.F948F|SMC2_ENST00000374793.3_Silent_p.F948F|SMC2_ENST00000374787.3_Silent_p.F948F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	948					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GACACCTCTTTGGCCAACCCA	0.373000													84	22					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120577144	120577144	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:120577144C>T	ENST00000427067.2	-	24	2426	c.2246G>A	c.(2245-2247)aGa>aAa	p.R749K	ENPP2_ENST00000259486.6_Missense_Mutation_p.R780K|ENPP2_ENST00000522826.1_Missense_Mutation_p.R753K|ENPP2_ENST00000075322.6_Missense_Mutation_p.R728K|ENPP2_ENST00000522167.1_Missense_Mutation_p.R363K			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	728					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTCCATTTCTTTCCGAAGC	0.358000													18	46					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271436	9271436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9271436G>A	ENST00000247956.6	+	7	1420	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ZNF317_ENST00000360385.3_Missense_Mutation_p.R340H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AAAGCCTTCCGCTGGAAGTCC	0.542000													16	9					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166833431	166833431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:166833431C>T	ENST00000510118.1	-	20	2174	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G595S|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G498S|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G498S|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G587S|RPS6KA2_ENST00000509742.1_5'UTR			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	587	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCATCATAGCCTTGACGCTTC	0.557000													21	13					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	981720	981720	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:981720G>A	ENST00000247933.4	+	2	370	c.282G>A	c.(280-282)ctG>ctA	p.L94L	IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR|IDUA_ENST00000453894.1_Intron	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	94					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ACTGGCTGCTGGAGCTTGTCA	0.682000													3	11					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697867	113697867	+	Silent	SNP	C	C	T	rs144040661		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113697867C>T	ENST00000297405.5	-	15	2494	c.2250G>A	c.(2248-2250)acG>acA	p.T750T	CSMD3_ENST00000343508.3_Silent_p.T710T|CSMD3_ENST00000455883.2_Silent_p.T646T|CSMD3_ENST00000352409.3_Silent_p.T750T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	750	CUB 4.					integral to membrane|plasma membrane		p.T750T(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGAGATTATCGTCCAGATGC	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	64					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627453	158627453	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158627453C>T	ENST00000368148.3	-	19	2799	c.2619G>A	c.(2617-2619)agG>agA	p.R873R	SPTA1_ENST00000368147.3_Silent_p.R873R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	873					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTCTTGACCCTAGAGGCCA	0.453000													20	71					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880924	1880924	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:1880924A>C	ENST00000505790.1	-	4	778	c.322T>G	c.(322-324)Tcg>Gcg	p.S108A	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.S108A|IRX4_ENST00000513692.1_Missense_Mutation_p.S108A	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCAGATCCCGAACCATCCTTG	0.637000													22	65					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541534	55541534	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:55541534G>A	ENST00000220676.1	+	4	5240	c.5092G>A	c.(5092-5094)Gag>Aag	p.E1698K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1698					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAATTCCAGGAGGAAAGACA	0.403000													47	79					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATGGTCCGCCAGAGTTCA	0.572000										Multiple Myeloma(13;0.14)			120	143					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708407	29708407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29708407C>T	ENST00000406549.3	+	6	1436	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	656					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGCCGCCCCTCCGGACCC	0.672000													12	19					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17403623	17403623	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17403623G>A	ENST00000247706.3	-	5	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MRPL34_ENST00000595444.1_Silent_p.R58R|MRPL34_ENST00000600434.1_5'UTR	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	389							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGAGCTTCAGGAATGCCAGGA	0.622000													10	15					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414792	88414792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:88414792C>T	ENST00000418378.1	-	5	1731	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.R387K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R262K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	387					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TACTTTTTCTCTTTGCTCCTC	0.433000													14	38					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2686531	2686531	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2686531G>A	ENST00000258796.7	+	2	373	c.168G>A	c.(166-168)ctG>ctA	p.L56L	TTYH3_ENST00000407643.1_Silent_p.L56L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	56						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCCTCGCCCTGGACCTCCTCT	0.711000													12	12					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277674	113277674	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113277674A>G	ENST00000297405.5	-	60	9898	c.9654T>C	c.(9652-9654)aaT>aaC	p.N3218N	CSMD3_ENST00000343508.3_Silent_p.N3178N|CSMD3_ENST00000455883.2_Silent_p.N3049N|CSMD3_ENST00000352409.3_Silent_p.N3148N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3218	Sushi 24.					integral to membrane|plasma membrane		p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATGTGCCATTAATTGTAC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	82					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141727464C>T	ENST00000475668.2	+	10	1204	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000549489.2_Missense_Mutation_p.R384C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453000													19	38					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494250	110494250	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110494250C>T	ENST00000324068.1	-	8	1220	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	CAPN6_ENST00000541758.1_Silent_p.K96K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	351	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATTCCAGCTCCTTTCGGCCAA	0.502000													215	230					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724812	7724812	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:7724812C>T	ENST00000303635.7	+	9	2412	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	CAMTA1_ENST00000439411.2_Silent_p.I735I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGTCCCCATCCTCCCGGGCA	0.652000			T	WWTR1	epitheliod hemangioendothelioma								34	43					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469726	10469726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10469726G>A	ENST00000382483.3	-	4	2105	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	628					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGTGGAAGGGGTGGAAGAG	0.662000													32	40					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387579	196387579	+	Silent	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:196387579C>G	ENST00000328557.4	+	3	1268	c.1065C>G	c.(1063-1065)tcC>tcG	p.S355S		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CTTCCCTCTCCCACCTGAACC	0.602000													34	70					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416621	49416621	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49416621A>T	ENST00000301067.7	-	51	16089	c.16090T>A	c.(16090-16092)Tat>Aat	p.Y5364N		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGCTCTGATATGCCTTAGAC	0.542000													16	18					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637344	18637344	+	Silent	SNP	G	G	A	rs144589695	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18637344G>A	ENST00000336349.5	-	3	712	c.477C>T	c.(475-477)ccC>ccT	p.P159P	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	159										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CACTTTTAAGGGGGACCTTTG	0.453000													32	58					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509700	125509700	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125509700C>T	ENST00000341446.8	+	3	571	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	160						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627000													17	88					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654438	94654438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:94654438C>T	ENST00000260526.6	-	15	1818	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	546					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCGCTGCTCCCTCCAGTGCTC	0.368000													19	84					0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101581424	101581424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101581424C>T	ENST00000395088.2	+	34	3749	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	NXF2_ENST00000330252.5_Missense_Mutation_p.S626F|NXF2_ENST00000372758.1_Missense_Mutation_p.S626F|NXF2_ENST00000372757.1_Missense_Mutation_p.S626F|NXF2_ENST00000372763.1_3'UTR			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	626					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			endometrium(2)|lung(2)	4						AAGCAAATCTCCTAAAAGGAG	0.498000													29	153					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48542845	48542845	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:48542845G>A	ENST00000358350.4	-	46	6424	c.5820C>T	c.(5818-5820)aaC>aaT	p.N1940N	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.N1940N|FRYL_ENST00000503238.1_Silent_p.N1940N|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1940					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATCTCAAAGAGTTACTTCTTG	0.418000													19	27					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17065601	17065601	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:17065601G>A	ENST00000262096.8	+	8	1425	c.730_splice	c.e8+1	p.E244_splice		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	244						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATCTACATTAGGTGAGTATCC	0.348000													4	2					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26667171	26667171	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26667171C>T	ENST00000288710.2	+	9	1184	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGTCTCTAACCTCGGACTACA	0.428000													28	28					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349587	70349587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70349587C>T	ENST00000333646.6	+	27	3948	c.3749C>T	c.(3748-3750)cCa>cTa	p.P1250L	MED12_ENST00000374102.1_Missense_Mutation_p.P1250L|MED12_ENST00000374080.3_Missense_Mutation_p.P1250L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1250					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAAGAACTTCCAGAGGAGGAG	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266767	1266767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1266767C>T	ENST00000447027.1	+	31	8724	c.8666C>T	c.(8665-8667)cCc>cTc	p.P2889L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2886L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2886	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACAGCTACCCCATGCCGGGG	0.677000													22	46					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48470331	48470331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:48470331G>A	ENST00000324324.7	-	1	383	c.104C>T	c.(103-105)cCc>cTc	p.P35L	MYEF2_ENST00000267836.6_Missense_Mutation_p.P35L	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	35					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGCCTCCGCGGGGTGCGGCTC	0.716000													3	4					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11775176	11775176	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11775176G>A	ENST00000294485.5	+	6	983	c.847_splice	c.e6-1	p.G283_splice		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GTGTTGGCAGGGACTTGCTGC	0.602000													26	31					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39263055	39263055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:39263055G>A	ENST00000407418.3	-	5	521	c.398C>T	c.(397-399)cCc>cTc	p.P133L	CBX6_ENST00000216083.6_Missense_Mutation_p.P115L			O95503	CBX6_HUMAN	chromobox homolog 6	133					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCGGGGCAGGGGACGGCGGGA	0.711000													9	10					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458336	42458336	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42458336G>A	ENST00000262407.5	-	13	1335	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	ITGA2B_ENST00000377068.3_Missense_Mutation_p.S120F|ITGA2B_ENST00000353281.4_Missense_Mutation_p.S435F	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	435					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGGACCTGGGAGGGACGTGA	0.642000													21	56					0	0	1	0	0
MORN4	118812	broad.mit.edu	37	10	99376133	99376133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99376133G>A	ENST00000335628.3	-	4	501	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.P110S|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	110										large_intestine(1)|lung(1)|stomach(2)	4						TCATTGCGGGGGATTCCATGA	0.498000													15	37					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103483419	103483419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103483419C>T	ENST00000358392.2	-	11	1723	c.1406G>A	c.(1405-1407)gGt>gAt	p.G469D	COL11A1_ENST00000512756.1_Missense_Mutation_p.G341D|COL11A1_ENST00000370096.3_Missense_Mutation_p.G457D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G418D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	457	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTGTAGACCTGGAGGACC	0.403000													19	71					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840275	1840275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1840275G>A	ENST00000331238.5	-	2	859	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	281	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GACACACAGGGGACAGCGGAG	0.682000													3	10					0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131117186	131117186	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:131117186C>T	ENST00000175756.5	+	5	482	c.381C>T	c.(379-381)atC>atT	p.I127I	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	127	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCTAGGTGATCCTGATGGCCT	0.587000													8	30					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73565309	73565309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73565309C>T	ENST00000392550.3	+	14	1601	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	LLGL2_ENST00000167462.5_Missense_Mutation_p.S495F|LLGL2_ENST00000577200.1_Missense_Mutation_p.S495F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	495					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGTGGGCTCCTTTGACCCC	0.657000													25	53					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147513428	147513428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147513428C>T	ENST00000359874.3	+	33	3327	c.3254C>T	c.(3253-3255)aCc>aTc	p.T1085I	SPINK5_ENST00000256084.7_Missense_Mutation_p.T1055I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1055					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCACCGCAGCCAGC	0.512000													21	38					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88441437	88441437	+	Missense_Mutation	SNP	C	C	T	rs45487699		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:88441437C>T	ENST00000429277.2	+	5	711	c.566C>T	c.(565-567)tCg>tTg	p.S189L	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000361373.4_Missense_Mutation_p.S189L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.S189L|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.S189L|LDB3_ENST00000372056.4_Missense_Mutation_p.S189L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	189			S -> L (in CMD1C; dbSNP:rs45487699).			cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCGGGCTCGAGCCAGCCG	0.672000													29	41					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179731940	179731940	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:179731940C>T	ENST00000253778.8	-	17	1844		c.e17-1			NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTTAATTTTCTGGAAACAGG	0.547000													42	72					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17781111	17781111	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:17781111G>A	ENST00000378814.5	-	30	3656	c.3657C>T	c.(3655-3657)tcC>tcT	p.S1219S	KIF13A_ENST00000378816.5_Silent_p.S1232S|KIF13A_ENST00000378826.2_Silent_p.S1232S|KIF13A_ENST00000378843.2_Silent_p.S1219S|KIF13A_ENST00000259711.6_Silent_p.S1232S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1232					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATGCACCGAGGAATCCCAAG	0.448000													24	15					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117718196	117718196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:117718196G>A	ENST00000368508.3	-	7	859	c.661C>T	c.(661-663)Cca>Tca	p.P221S	ROS1_ENST00000368507.3_Missense_Mutation_p.P230S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	221	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTCCACCTGGGAATTGAGGT	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								61	36					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134153240	134153240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:134153240C>T	ENST00000452510.2	+	20	2826	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S	DDX46_ENST00000354283.4_Missense_Mutation_p.P889S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	889					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATTCTGGCTCCCACTGTTTC	0.438000													12	26					0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60201298	60201298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60201298C>T	ENST00000300190.2	+	4	486	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	134						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TGGAATCATTCTCCTCACATT	0.368000													42	63					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800799	35800799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35800799C>T	ENST00000342694.2	+	6	1567	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	438					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGACAATCCCCCCTGTGCCTT	0.582000													29	17					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103369698	103369698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:103369698C>T	ENST00000560371.1	+	10	1284	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	TRAF3_ENST00000539721.1_Missense_Mutation_p.S273F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S356F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S331F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S331F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	356					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGCGTGGAGTCCCTCCAGAAC	0.632000													30	53					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159995110	159995110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:159995110G>A	ENST00000326448.7	-	18	2515	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	IFT80_ENST00000483465.1_Missense_Mutation_p.L558F|IFT80_ENST00000496589.1_Missense_Mutation_p.L558F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L866F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	695						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGTTGTAGAGATTAATATTG	0.363000													39	55					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140027	178140027	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:178140027G>A	ENST00000335815.2	-	5	1049	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	284					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		GTTTATAAAGGGATGTACTGA	0.378000													32	53					0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612735	102612735	+	Silent	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:102612735A>C	ENST00000372661.3	+	3	434	c.123A>C	c.(121-123)gcA>gcC	p.A41A	WBP5_ENST00000372656.3_Silent_p.A41A	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	41	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGGCCAAAGCAAAAGGAACTT	0.418000													33	44					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618868	141618868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141618868C>T	ENST00000548136.1	+	1	252	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCGGCCACCTCTCTGCCCT	0.483000													50	123					0	0	1	0	0
PARK7	11315	broad.mit.edu	37	1	8022903	8022903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8022903G>A	ENST00000493678.1	+	2	125	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.V20I|PARK7_ENST00000377491.1_Missense_Mutation_p.V20I|PARK7_ENST00000377493.5_Missense_Mutation_p.V20I|PARK7_ENST00000338639.5_Missense_Mutation_p.V20I			Q99497	PARK7_HUMAN	parkinson protein 7	20					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		AATGGAGACGGTCATCCCTGT	0.363000													45	14					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72250826	72250826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72250826G>A	ENST00000582365.1	+	10	1276	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	CNDP1_ENST00000358821.3_Missense_Mutation_p.D447N			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	447					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TATGATCCGGGATGGATCCAC	0.488000													29	52					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067193	11067193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11067193G>A	ENST00000287766.4	+	8	1194	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G80E	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	258					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCTTCCGTGGAGTGACGCTG	0.582000													12	33					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52517151	52517151	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:52517151T>G	ENST00000261839.7	-	28	3554	c.3393A>C	c.(3391-3393)ttA>ttC	p.L1131F		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1131						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATCCTCATTTAAATGTTCCA	0.338000													24	31					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252876	124252876	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124252876G>A	ENST00000375013.2	-	1	382	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCACATAGCGATCATATGCC	0.413000													10	28					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221712	5221712	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5221712G>A	ENST00000321255.1	-	1	218	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAGCATGGACAGGAAGT	0.527000													31	50					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15638708	15638708	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:15638708G>A	ENST00000437605.2	+	3	296	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000593105.1_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.G16S	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	16						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CCAGGGGCAAGGCAATATCAT	0.582000													44	59					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19440289	19440289	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:19440289G>T	ENST00000375267.2	-	77	11364	c.11361C>A	c.(11359-11361)tcC>tcA	p.S3787S	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375254.3_Silent_p.S3787S|UBR4_ENST00000375217.2_Silent_p.S3780S|UBR4_ENST00000375226.2_Silent_p.S3763S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3787					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)		TGGCAGAAGTGGAGCTGATGC	0.512000											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	36					1.10345e-40	1.12949e-40	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140263184	140263184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140263184G>A	ENST00000289272.2	+	1	1331	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G444E|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCGGTGGGGGTGGCCGAC	0.677000													65	100					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055173	9055173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:9055173C>T	ENST00000383836.3	-	17	2393	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A632T	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	656	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGCAGATGGCCAGGTTGTAG	0.542000			T	RAF1	pilocytic astrocytoma								19	36					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722526	150722526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150722526C>T	ENST00000335244.4	-	4	492	c.363G>A	c.(361-363)atG>atA	p.M121I	SLC36A2_ENST00000521967.1_Missense_Mutation_p.M121I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	121					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCATAGTCCATAAAGGGCT	0.498000													25	35					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92949034	92949034	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:92949034G>A	ENST00000532405.1	+	13	1492	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	SLC24A4_ENST00000393265.2_Silent_p.G358G|SLC24A4_ENST00000298877.1_Silent_p.G405G|SLC24A4_ENST00000531433.1_Silent_p.G403G|SLC24A4_ENST00000351924.5_Silent_p.G386G			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	422						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGGCCAGAGGGGACAAGGTCA	0.562000													35	50					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2757795	2757795	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:2757795G>A	ENST00000315423.7	-	1	308	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TNIP2_ENST00000503235.1_Silent_p.F74F|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	74						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCTCCCGGAAGCGCGCAA	0.751000													3	4					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526363	23526363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:23526363C>T	ENST00000296682.3	+	11	1348	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	389					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGATCCATCCATGTCCCTCA	0.438000										HNSCC(3;0.000094)			32	54					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53857424	53857424	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53857424C>T	ENST00000315251.5	-	3	1049	c.612G>A	c.(610-612)gaG>gaA	p.E204E		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	204					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTGCGTGGCCTCCAGGAATG	0.682000													6	9					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100910724	100910724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:100910724C>T	ENST00000393437.3	-	9	2363	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	LONRF2_ENST00000409647.1_Missense_Mutation_p.R332Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	575	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CATGCCAAACCGCTTGGTGCC	0.502000													22	46					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530927	80530927	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80530927G>A	ENST00000295057.3	-	2	674	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L6L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	6						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GACAGAGACCGAGCAGCAGGA	0.567000										HNSCC(69;0.2)			21	35					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60375617	60375617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:60375617G>A	ENST00000371204.3	-	5	743	c.700C>T	c.(700-702)Cca>Tca	p.P234S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	234					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATTATCCATGGAAAGACATTG	0.353000													14	19					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596621	24596621	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:24596621C>T	ENST00000535378.1	-	4	896	c.254G>A	c.(253-255)gGc>gAc	p.G85D	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94D|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94D|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49D|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94D	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	94	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTGATGGGGCCCATCTTCTT	0.602000													25	19					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822041	93822041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93822041C>T	ENST00000315765.9	+	12	2209	c.2201C>T	c.(2200-2202)aCt>aTt	p.T734I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	734	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGATAAGAACTTTTTACATC	0.527000													27	48					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117420625	117420625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:117420625G>A	ENST00000160373.3	-	7	2484	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	798										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCATCATATGAAATTAATAA	0.338000													29	59					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228553779	228553779	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228553779C>T	ENST00000570156.2	+	94	22013	c.21939C>T	c.(21937-21939)ccC>ccT	p.P7313P	OBSCN_ENST00000422127.1_Silent_p.P6356P|OBSCN_ENST00000366707.4_Silent_p.P3990P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6356					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCAGGGCCCCCATCCATGC	0.627000													24	18					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133393162	133393162	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:133393162G>A	ENST00000204726.3	-	3	928	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	GOLGA3_ENST00000545875.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L124F|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L124F	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	124	Interaction with GOPC.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGAGTCTGAGAGACTGCAAA	0.542000													60	47					0	0	1	0	0
RP11-542C16.2	0	broad.mit.edu	37	17	7221175	7221175	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7221175G>T	ENST00000575474.1	-	5	577	c.578C>A	c.(577-579)cCc>cAc	p.P193H	NEURL4_ENST00000315614.7_Silent_p.A1377A|NEURL4_ENST00000399464.2_Silent_p.A1379A|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.A1355A																							TGCGCCTGTGGGCCTCGTCTC	0.582000													31	27					9.65021e-13	9.78196e-13	1	1	0
OR8K1	390157	broad.mit.edu	37	11	56114290	56114290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56114290G>A	ENST00000279783.2	+	1	870	c.776G>A	c.(775-777)gGg>gAg	p.G259E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATGTTCTATGGGACATTGTTA	0.403000										HNSCC(65;0.19)			20	36					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991690	144991690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144991690G>A	ENST00000322810.4	-	32	12879	c.12710C>T	c.(12709-12711)aCc>aTc	p.T4237I	PLEC_ENST00000527096.1_Missense_Mutation_p.T4123I|PLEC_ENST00000345136.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354589.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354958.2_Missense_Mutation_p.T4078I|PLEC_ENST00000356346.3_Missense_Mutation_p.T4086I|PLEC_ENST00000357649.2_Missense_Mutation_p.T4104I|PLEC_ENST00000436759.2_Missense_Mutation_p.T4127I|PLEC_ENST00000398774.2_Missense_Mutation_p.T4068I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4237	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCAGGTAGGTGAGGTTCTC	0.587000													32	49					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533830	533830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:533830C>A	ENST00000417302.1	-	3	413	c.226G>T	c.(226-228)Gag>Tag	p.E76*	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Nonsense_Mutation_p.E76*|HRAS_ENST00000311189.7_Nonsense_Mutation_p.E76*|HRAS_ENST00000397596.2_Nonsense_Mutation_p.E76*|HRAS_ENST00000451590.1_Nonsense_Mutation_p.E76*	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	76					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	AGGAAGCCCTCCCCGGTGCGC	0.617000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			35	64					9.04072e-19	9.2201e-19	1	1	0
DSP	1832	broad.mit.edu	37	6	7571787	7571787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7571787C>T	ENST00000379802.3	+	14	2214	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q625*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	625	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGTCATTCAGCTCCCTGG	0.468000													46	24					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156608056	156608056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:156608056C>T	ENST00000422843.3	+	1	220	c.68C>T	c.(67-69)cCc>cTc	p.P23L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	23	PH.		P -> L (in a metastatic melanoma sample; somatic mutation).		cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P23L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACTTCTCCCTCGAACTTT	0.433000			T	SYK	peripheral T-cell lymphoma								38	74					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182790237	182790237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:182790237C>T	ENST00000492597.1	-	4	783	c.81G>A	c.(79-81)atG>atA	p.M27I	MCCC1_ENST00000265594.4_Missense_Mutation_p.M136I|MCCC1_ENST00000539926.1_Start_Codon_SNP_p.M1I			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	136					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CAGCAAATTCCATGTTTTCTG	0.358000													18	24					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563456	32563456	+	Missense_Mutation	SNP	G	G	A	rs149893615		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:32563456G>A	ENST00000345122.3	+	2	3896	c.3581G>A	c.(3580-3582)gGa>gAa	p.G1194E	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1194E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1194					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGACATCGTGGAAGTGAAGAA	0.383000													44	62					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793084	140793084	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140793084G>A	ENST00000398610.2	+	1	342	c.342G>A	c.(340-342)gtG>gtA	p.V114V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATCCTTGTGGAAGACAGGG	0.478000													32	54					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39552766	39552766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:39552766G>A	ENST00000263881.3	-	12	1135	c.811C>T	c.(811-813)Cct>Tct	p.P271S	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	271	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTTACAAAAGGATGCTATAAA	0.289000													17	30					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109792740	109792740	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:109792740G>A	ENST00000356711.2	+	32	4240	c.4114G>A	c.(4114-4116)Ggg>Agg	p.G1372R	MYO16_ENST00000357550.2_Missense_Mutation_p.G1372R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1372					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTcccggcccggggacgcgag	0.721000													15	9					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852491	144852491	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:144852491G>A	ENST00000369359.4	-	47	7454	c.7416C>T	c.(7414-7416)tcC>tcT	p.S2472S	PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.S2230S|PDE4DIP_ENST00000530740.1_Silent_p.S2421S|PDE4DIP_ENST00000369354.3_Silent_p.S2336S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2336					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGCCCTTAGGGATTTCACCT	0.507000			T	PDGFRB	MPD								5	26					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263793	1263793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1263793G>A	ENST00000447027.1	+	31	5750	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCCACGGCCACGCCCTC	0.617000													34	62					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4867664	4867664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:4867664C>T	ENST00000321919.9	-	10	917	c.841G>A	c.(841-843)Gga>Aga	p.G281R	GLYR1_ENST00000591451.1_Missense_Mutation_p.G281R|GLYR1_ENST00000381983.3_Missense_Mutation_p.G264R|GLYR1_ENST00000436648.5_Missense_Mutation_p.G200R	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	281					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GAGACGATTCCACTTCCCATG	0.502000													48	63					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130368167	130368167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:130368167C>T	ENST00000358511.6	+	32	5525	c.5494C>T	c.(5494-5496)Cct>Tct	p.P1832S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1832S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1832	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAACTATTCCTTATGAGAG	0.512000													6	14					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744617	744617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:744617G>A	ENST00000381944.3	-	3	839	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.P200S			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	200					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TCCATTCCGGGGAGGGCGGAC	0.582000													5	12					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29898813	29898813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29898813G>A	ENST00000431530.3	+	5	2958	c.2900G>A	c.(2899-2901)aGa>aAa	p.R967K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	957	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTCCTAAGAGAGTAGCAGCT	0.373000													3	5					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646390	19646390	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19646390C>T	ENST00000555938.1	+	7	605	c.593C>T	c.(592-594)cCc>cTc	p.P198L	YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199L|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149L																							GTACTGGGCCCCGGCGTGGAG	0.701000													8	16					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48090187	48090187	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48090187C>T	ENST00000005386.3	-	5	533		c.e5-1		RPAP3_ENST00000380650.4_Splice_Site|RPAP3_ENST00000432584.3_Splice_Site	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3								binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATTTATTGCCCTGAAAGAAAA	0.368000													8	24					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39660313	39660313	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39660313G>A	ENST00000599386.1	+	3	301	c.120G>A	c.(118-120)caG>caA	p.Q40Q	PAK4_ENST00000599470.1_Silent_p.Q40Q|PAK4_ENST00000435673.2_Silent_p.Q40Q|PAK4_ENST00000321944.4_Silent_p.Q40Q|PAK4_ENST00000593690.1_Silent_p.Q40Q|PAK4_ENST00000360442.3_Silent_p.Q40Q|PAK4_ENST00000358301.3_Silent_p.Q40Q	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	40	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCAGTGGCAGAGCCTGATCG	0.697000													28	30					0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11716069	11716069	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11716069G>A	ENST00000376770.1	+	3	675	c.177G>A	c.(175-177)gaG>gaA	p.E59E	FBXO44_ENST00000376768.1_Silent_p.E59E|FBXO44_ENST00000251546.4_Silent_p.E59E|FBXO44_ENST00000376760.1_Silent_p.E59E|FBXO44_ENST00000251547.5_Silent_p.E59E|FBXO44_ENST00000376762.4_Silent_p.E59E	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	59					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCACTGAGGACTGGGACC	0.617000													19	76					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985354	108985354	+	Missense_Mutation	SNP	G	G	A	rs143295982		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:108985354G>A	ENST00000392806.3	-	2	974	c.806C>T	c.(805-807)cCc>cTc	p.P269L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	269						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GCTTTCGGGGGGACCCACTGG	0.667000													54	135					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179606173	179606173	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179606173C>T	ENST00000589042.1	-	48	12011	c.11787G>A	c.(11785-11787)ctG>ctA	p.L3929L	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.L3612L|TTN_ENST00000359218.5_Silent_p.L3691L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.L3758L|TTN_ENST00000460472.2_Silent_p.L3566L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3612							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCTTTTCCAGAGATTTTG	0.433000													63	95					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640716	21640716	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21640716C>T	ENST00000328843.6	+	17	3375	c.3344C>T	c.(3343-3345)cCt>cTt	p.P1115L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1115	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						GACATGAAGCCTTTCAAAGTG	0.363000									Kartagener syndrome				32	21					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061788	13061788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:13061788C>T	ENST00000014914.5	+	2	1495	c.605C>T	c.(604-606)tCc>tTc	p.S202F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	202						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTGTGGTTCCTTCACGGGC	0.567000													66	107					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102898139	102898139	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102898139C>T	ENST00000312132.4	-	0	2433																											TCACTATTCCCATGAATGTGC	0.328000													46	55					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47349871	47349871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47349871C>T	ENST00000400314.1	+	12	1096	c.758C>T	c.(757-759)cCc>cTc	p.P253L	PCBP3_ENST00000400309.1_Missense_Mutation_p.P252L|PCBP3_ENST00000400304.1_Missense_Mutation_p.P243L|PCBP3_ENST00000400310.1_Missense_Mutation_p.P253L|PCBP3_ENST00000449640.1_Missense_Mutation_p.P253L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.P227L|PCBP3_ENST00000468429.1_3'UTR			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	253					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCAAACCCCCTTTCCTCCC	0.552000													66	23					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49431286	49431286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:49431286T>A	ENST00000374201.3	-	11	1498	c.1196A>T	c.(1195-1197)gAa>gTa	p.E399V	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E368V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E375V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	399	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAATCTGGTTTCACTGTCCAG	0.458000													30	28					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57464648	57464648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57464648C>T	ENST00000300128.4	-	3	304	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	TMEM194A_ENST00000379391.3_Missense_Mutation_p.R94Q|TMEM194A_ENST00000553654.1_5'UTR	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	94						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGGTGACTCGAACCAATCT	0.343000													17	34					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691179	26691179	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26691179C>T	ENST00000436292.1	-	4	978	c.858G>A	c.(856-858)ctG>ctA	p.L286L	ZNF683_ENST00000349618.3_Silent_p.L286L|ZNF683_ENST00000374204.1_Silent_p.L286L|ZNF683_ENST00000403843.1_Silent_p.L286L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CACCACGCTCCAGGCCTGGGG	0.612000													20	67					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38251636	38251636	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38251636C>T	ENST00000412331.2	+	4	940	c.358C>T	c.(358-360)Cca>Tca	p.P120S	EIF3L_ENST00000381683.6_Missense_Mutation_p.P120S|EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	120						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCATTGCTCCACAGGTTGG	0.443000													13	19					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280042	22280042	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22280042G>A	ENST00000390431.3	+	0	231																											ACAAGGGAAGGAACAAAGGTT	0.463000													16	22					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	27017885	27017885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:27017885C>T	ENST00000541819.2	-	3	385	c.283G>A	c.(283-285)Gag>Aag	p.E95K	GABRB3_ENST00000311550.5_Missense_Mutation_p.E39K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E39K|GABRB3_ENST00000557641.1_5'UTR			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	39					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(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCACCGTCTCCTTCACAAAG	0.662000													5	13					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131362396	131362396	+	Splice_Site	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131362396T>G	ENST00000372739.3	+	27	3689		c.e27+2		SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGTGGAAGGTAAGAACTCCT	0.403000													37	14					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825106	74825106	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74825106C>T	ENST00000256362.4	+	2	1861	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	540					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACCTTCTGCCTTTTGGGTCT	0.662000													40	79					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90485694	90485694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:90485694G>A	ENST00000335725.4	+	15	1826	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	TDP1_ENST00000357382.3_Missense_Mutation_p.E287K|TDP1_ENST00000393452.3_Missense_Mutation_p.E526K|TDP1_ENST00000393454.2_Missense_Mutation_p.E526K|TDP1_ENST00000555880.1_Missense_Mutation_p.E526K	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	526					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGGAGCATTGGAGAAGAATGG	0.542000								Repair of DNA-protein crosslinks					11	28					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205038	26205038	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:26205038C>T	ENST00000360441.4	+	1	181	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	56					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CGAGGAGACTCGCGGGGTTCT	0.557000													34	39					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955834	113955834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113955834G>A	ENST00000482457.2	-	1	591	c.88C>T	c.(88-90)Cat>Tat	p.H30Y		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	30						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCACATTCATGGAGATTGTCT	0.502000													29	52					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962911	69962911	+	Missense_Mutation	SNP	G	G	A	rs146308452	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:69962911G>A	ENST00000305231.7	+	1	719	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E225K	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	225					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E225K(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTTTGGTTCGAAATATTTGA	0.318000													17	46					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069771	44069771	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:44069771C>T	ENST00000359947.4	+	16	3288	c.2948C>T	c.(2947-2949)aCt>aTt	p.T983I	PTPRF_ENST00000372414.3_Missense_Mutation_p.T983I|PTPRF_ENST00000372413.3_Missense_Mutation_p.T974I|PTPRF_ENST00000422171.2_Missense_Mutation_p.T331I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.T974I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	983	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)				CCAGACACCACTTACGACATC	0.587000													17	66					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806772	22806772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22806772C>T	ENST00000361524.3	-	4	1258	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	ZNF521_ENST00000584787.1_Missense_Mutation_p.M150I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M370I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	370					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTTCCACCATGGTTGAGC	0.552000			T	PAX5	ALL								16	46					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42635341	42635341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42635341G>A	ENST00000318010.8	+	19	2458	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	740					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTTCTTCCAGGATCAAATGA	0.373000													11	25					0	0	1	0	0
FABP4	2167	broad.mit.edu	37	8	82395376	82395376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:82395376C>T	ENST00000256104.4	-	1	122	c.27G>A	c.(25-27)tgG>tgA	p.W9*	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	9					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			AGACAAGTTTCCAGGTACCTA	0.378000													8	21					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461411	66461411	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461411C>T	ENST00000404260.3	+	29	6721	c.6413C>T	c.(6412-6414)cCg>cTg	p.P2138L	MAST4_ENST00000261569.7_Missense_Mutation_p.P1941L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2135L|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATCCCTCCGCCCCCTCTG	0.602000													6	17					0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48116746	48116746	+	Splice_Site	SNP	G	G	A	rs139158089		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48116746G>A	ENST00000376919.3	+	2	205		c.e2+1			NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAGAAGCAAGGTGACGTGACC	0.567000			T	SS18	synovial sarcoma								14	22					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50923674	50923674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:50923674G>A	ENST00000313478.7	-	10	1425	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H382Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	382					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACCCAATATGGAAAACAGTG	0.289000													11	42					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170749	77170749	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:77170749T>A	ENST00000253506.5	+	2	843	c.474T>A	c.(472-474)agT>agA	p.S158R	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.S158R|NFATC1_ENST00000427363.2_Missense_Mutation_p.S158R|NFATC1_ENST00000329101.4_Missense_Mutation_p.S145R|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S158R|NFATC1_ENST00000592223.1_Missense_Mutation_p.S145R|NFATC1_ENST00000591814.1_Missense_Mutation_p.S158R|NFATC1_ENST00000586434.1_Missense_Mutation_p.S145R|NFATC1_ENST00000318065.5_Missense_Mutation_p.S145R	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	158	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCACGCTGAGTCTGCCCAGCC	0.627000													18	31					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112033366	112033366	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112033366G>A	ENST00000369716.4	-	2	502	c.369C>T	c.(367-369)ctC>ctT	p.L123L	ADORA3_ENST00000369717.4_Silent_p.L42L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGCACCCAGGGAGCCCAGGAA	0.448000													23	21					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514891	37514891	+	Silent	SNP	C	C	G	rs140343057	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:37514891C>G	ENST00000264741.5	+	3	616	c.360C>G	c.(358-360)cgC>cgG	p.R120R	ITGA9_ENST00000422441.1_Silent_p.R120R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	120					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGGAAGACCGCGATGATGAGT	0.622000													17	40					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107823796	107823796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107823796C>T	ENST00000328300.6	+	14	1058	c.814C>T	c.(814-816)Cca>Tca	p.P272S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P272S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	272	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGACCTCCAGGGATACG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				47	83					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011790	21011790	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21011790G>A	ENST00000261383.3	-	43	6176	c.6177C>T	c.(6175-6177)ttC>ttT	p.F2059F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2059	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTTTTCAAGAAGAAGGACT	0.532000													17	28					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932346	23932346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932346C>T	ENST00000331837.4	-	1	104	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	7					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCGCTCAGATCCTTACTTTGT	0.647000									Prader-Willi syndrome				8	15					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489106	72489106	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:72489106C>T	ENST00000373208.1	+	5	927	c.927C>T	c.(925-927)gtC>gtT	p.V309V	ADAMTS14_ENST00000373207.1_Silent_p.V309V	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	309	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGCCCTCGTCCGCTTGATCA	0.493000													22	40					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344919	56344919	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56344919G>A	ENST00000526812.2	-	1	344	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCCAGCGTAGGAGATGGTCT	0.428000													27	41					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246016	33246016	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33246016C>T	ENST00000404816.2	+	3	959	c.606C>T	c.(604-606)ctC>ctT	p.L202L	LTBP1_ENST00000354476.3_Silent_p.L202L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	202	EGF-like 1.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGTGTCTCCGGCCACAAC	0.498000													102	171					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005651	150005651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:150005651G>A	ENST00000543571.1	-	4	1121	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	LATS1_ENST00000392273.3_Missense_Mutation_p.P192S|LATS1_ENST00000253339.5_Missense_Mutation_p.P192S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	192					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCTAGTGGCGGGCCATGCCTC	0.448000													31	17					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66036244	66036244	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:66036244C>T	ENST00000349533.6	+	4	314	c.129C>T	c.(127-129)acC>acT	p.T43T	LEPR_ENST00000371059.3_Silent_p.T43T|LEPR_ENST00000371060.3_Silent_p.T43T|LEPR_ENST00000371058.1_Silent_p.T43T|LEPR_ENST00000344610.8_Silent_p.T43T|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	43					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAAATTCAACCTATGACTACT	0.353000													19	66					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316087	43316087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43316087G>A	ENST00000361428.2	-	6	3124	c.3047C>T	c.(3046-3048)tCg>tTg	p.S1016L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S1016L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1016					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTTGAGAACGATGACACTTT	0.378000													66	78					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829252	31829252	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31829252C>T	ENST00000354297.4	+	6	714	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	BPIFA1_ENST00000375413.4_Silent_p.L215L|BPIFA1_ENST00000375422.2_Silent_p.L215L	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	215					innate immune response	extracellular region	lipid binding										GAATAAAGTCCTGCCTGAGTT	0.512000													87	129					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153228799	153228799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153228799G>A	ENST00000310441.7	-	4	1555	c.589C>T	c.(589-591)Cca>Tca	p.P197S	HCFC1_ENST00000354233.3_Missense_Mutation_p.P197S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	197					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGTGGTGGTAGGACCCCG	0.537000													45	77					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569013	49569013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49569013C>T	ENST00000545947.1	+	6	1791	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	DAG1_ENST00000308775.2_Missense_Mutation_p.P357S|DAG1_ENST00000541308.1_Missense_Mutation_p.P357S|DAG1_ENST00000539901.1_Missense_Mutation_p.P357S|DAG1_ENST00000538711.1_Missense_Mutation_p.P357S|DAG1_ENST00000515359.2_Missense_Mutation_p.P357S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	357	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATGGCTCCTCCAGTCAGGGA	0.612000													56	101					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126715138	126715138	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715138G>A	ENST00000309035.6	-	1	1321	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCAGCTCGGGGGGATGCTG	0.687000													3	5					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3685393	3685393	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:3685393T>A	ENST00000250693.1	+	5	1059	c.958T>A	c.(958-960)Ttt>Att	p.F320I		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	320					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGTGAGGGCCTTTCCAGATGG	0.597000													63	78					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29001405	29001405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29001405G>A	ENST00000282397.4	-	10	1578	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	FLT1_ENST00000541932.1_Missense_Mutation_p.L443F|FLT1_ENST00000539099.1_Missense_Mutation_p.L443F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	443	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGTGGGTAGAGAGCCGGGTCT	0.488000													30	49					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74277775	74277775	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74277775T>A	ENST00000295897.4	+	7	865	c.776T>A	c.(775-777)gTg>gAg	p.V259E	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V109E|ALB_ENST00000509063.1_Missense_Mutation_p.V259E|ALB_ENST00000415165.2_Missense_Mutation_p.V67E|ALB_ENST00000401494.3_Missense_Mutation_p.V144E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	259	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCCAAGTTAGTGACAGATCTT	0.438000													29	38					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406772	148406772	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148406772G>A	ENST00000538184.1	-	7	2052	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	SH3TC2_ENST00000394358.2_Silent_p.L726L|SH3TC2_ENST00000512049.1_Silent_p.L834L|SH3TC2_ENST00000515425.1_Silent_p.L841L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	841							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCCAGGAGGTTATAGA	0.557000													112	146					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40827457	40827457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:40827457G>A	ENST00000396617.3	-	6	681	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	MKL1_ENST00000407029.1_Missense_Mutation_p.R31C|MKL1_ENST00000402630.1_Missense_Mutation_p.R31C|MKL1_ENST00000355630.3_Missense_Mutation_p.R31C|MKL1_ENST00000402042.1_Missense_Mutation_p.R31C			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	31	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCCGGGAACGAATCTTCCGT	0.473000			T	RBM15	acute megakaryocytic leukemia								67	123					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647164	57647164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57647164G>A	ENST00000269834.1	-	5	926	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGAAGGCGTGACTTTGAA	0.398000													54	91					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228157944	228157944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:228157944G>A	ENST00000396578.3	+	38	3410	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1083	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1083E(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAAGAAAGGAGAAATGGGG	0.512000													19	15					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465802	241465802	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241465802G>A	ENST00000391987.1	-	6	1113	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.G338G|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Silent_p.G249G|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	249							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGTGCAAAGCCACTGCGCT	0.537000													25	10					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022359	76022359	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:76022359C>T	ENST00000393004.2	-	5	3410	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E	FILIP1_ENST00000370020.1_Silent_p.E964E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.E1063E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1063										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTATTGTCCTCTGTGGTTA	0.458000													74	87					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559548	228559548	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228559548C>T	ENST00000570156.2	+	105	24014	c.23940C>T	c.(23938-23940)tcC>tcT	p.S7980S	OBSCN_ENST00000422127.1_Silent_p.S7023S|OBSCN_ENST00000366707.4_Silent_p.S4657S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7023					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGCCATCCCCGGACAGCC	0.701000													31	8					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145530899	145530899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145530899G>A	ENST00000369304.3	+	7	806	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ITGA10_ENST00000539363.1_Missense_Mutation_p.E68K|ITGA10_ENST00000538811.1_Missense_Mutation_p.E80K	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	211	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGTATGGGGAGAGCCCTGT	0.493000													19	22					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085585	10085585	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:10085585C>T	ENST00000380861.4	+	11	1877	c.1486C>T	c.(1486-1488)Cta>Tta	p.L496L	WWC3_ENST00000454666.1_Silent_p.L496L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	496										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTGGGCGCCCTAGACAGACT	0.721000													7	6					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41854275	41854275	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:41854275G>A	ENST00000221930.5	-	2	1307	c.441C>T	c.(439-441)ccC>ccT	p.P147P		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	147					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGAGCAACACGGGTTCAGGTA	0.507000													58	100					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45150650	45150650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45150650C>T	ENST00000425690.3	+	2	534	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	PVR_ENST00000403059.4_Missense_Mutation_p.H79Y|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.H79Y|PVR_ENST00000406449.4_Missense_Mutation_p.H79Y	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	79	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCGTCTTCCACCAAACGCA	0.622000													10	17					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56303724	56303724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56303724C>T	ENST00000443188.1	-	9	3166	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	NLRP11_ENST00000360133.3_Missense_Mutation_p.G765E|NLRP11_ENST00000592953.1_Missense_Mutation_p.G720E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G819E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G765E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	819							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGCAACACTCCGTAATTTTT	0.468000													43	68					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322298	67322298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67322298C>T	ENST00000360461.5	+	19	5984	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S1069F|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S1150F|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S1150F	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1150					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGCCAGCCCTCTTTGAGTATG	0.627000													34	35					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205069074G>A	ENST00000264515.6	-	8	1012	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458000													37	110					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204937395	204937395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204937395G>A	ENST00000367172.4	+	9	1053	c.725G>A	c.(724-726)aGa>aAa	p.R242K	NFASC_ENST00000404907.1_Missense_Mutation_p.R253K|NFASC_ENST00000513543.1_Missense_Mutation_p.R253K|NFASC_ENST00000360049.4_Missense_Mutation_p.R253K|NFASC_ENST00000367170.4_Missense_Mutation_p.R242K|NFASC_ENST00000367171.4_Missense_Mutation_p.R242K|NFASC_ENST00000404076.1_Missense_Mutation_p.R236K|NFASC_ENST00000338586.6_Missense_Mutation_p.R242K|NFASC_ENST00000367169.4_Missense_Mutation_p.R242K|NFASC_ENST00000339876.6_Missense_Mutation_p.R242K|NFASC_ENST00000338515.6_Missense_Mutation_p.R242K|NFASC_ENST00000401399.1_Missense_Mutation_p.R242K|NFASC_ENST00000403080.1_Missense_Mutation_p.R242K|NFASC_ENST00000539706.1_Missense_Mutation_p.R253K			O94856	NFASC_HUMAN	neurofascin	242					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTTGCAGAAAGAACACCAAGC	0.577000													19	51					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883178	13883178	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13883178C>T	ENST00000265104.4	-	20	3113	c.3009G>A	c.(3007-3009)aaG>aaA	p.K1003K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1003	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1003N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTGTTCTGCTTCATGTTAG	0.433000									Kartagener syndrome				33	49					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27278228	27278228	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:27278228G>A	ENST00000397501.1	+	9	1246	c.438G>A	c.(436-438)gaG>gaA	p.E146E	PTK2B_ENST00000517339.1_Silent_p.E146E|PTK2B_ENST00000420218.2_Silent_p.E146E|PTK2B_ENST00000338238.4_Silent_p.E146E|PTK2B_ENST00000346049.5_Silent_p.E146E|PTK2B_ENST00000544172.1_Silent_p.E146E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	146	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GCCTGAAGGAGGACAGGACCA	0.483000													28	58					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105233028	105233028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:105233028C>T	ENST00000262903.4	-	12	1517	c.1241G>A	c.(1240-1242)gGg>gAg	p.G414E	HACE1_ENST00000369125.2_Missense_Mutation_p.G414E	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATAGCTCCCAGGTCCTGG	0.438000													22	28					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	40					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150345221	150345221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150345221C>T	ENST00000218316.3	+	1	97	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	10					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTCCCACCCCCTATGGCTG	0.552000													46	70					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472686	76472686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:76472686C>T	ENST00000396423.2	+	9	1325	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	HNF4G_ENST00000354370.1_Missense_Mutation_p.H364Y	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	364					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACACTGGTTCATGCAGACCA	0.373000													18	34					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38136501	38136501	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38136501G>A	ENST00000308059.6	+	13	2072	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	DLEC1_ENST00000452631.2_Missense_Mutation_p.R684K|DLEC1_ENST00000346219.3_Missense_Mutation_p.R684K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	684					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCATGCCCAGAAAGGGGGTT	0.537000													24	30					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72947532	72947532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72947532G>A	ENST00000264839.7	+	9	1864	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	RIMS1_ENST00000401910.3_Missense_Mutation_p.G96R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G622R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G622R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G81R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G622R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G15R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G96R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G622R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G622R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G622R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G622R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	622	PDZ.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAGGTTGTTGGAGGAAAAAT	0.358000													7	21					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200787	62200787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62200787C>T	ENST00000467148.1	-	4	871	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGCTGCAGCCCCAGCTTTTGT	0.667000													6	20					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039041	55039041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55039041C>T	ENST00000456047.2	-	4	394	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	DCD_ENST00000293371.6_Missense_Mutation_p.G69S			P81605	DCD_HUMAN	dermcidin	69					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCGTCTAGGCCTTTTTCTAGG	0.493000													29	48					0	0	1	0	0
DBP	1628	broad.mit.edu	37	19	49134201	49134201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49134201C>T	ENST00000222122.5	-	4	1314	c.871G>A	c.(871-873)Gag>Aag	p.E291K	DBP_ENST00000593500.1_Missense_Mutation_p.E89K|DBP_ENST00000599385.1_Missense_Mutation_p.E89K	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	291	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TTCTCCTTCTCCAGGAAGGCC	0.672000													11	14					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7480428	7480428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:7480428C>T	ENST00000399429.3	-	21	1855	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	572	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTTTGGTCCTTCGGGCCC	0.373000													35	49					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44051777	44051777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:44051777G>A	ENST00000344290.5	+	4	569	c.247G>A	c.(247-249)Gga>Aga	p.G83R	MAPT_ENST00000574436.1_Missense_Mutation_p.G83R|MAPT_ENST00000571987.1_Missense_Mutation_p.G83R|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83R|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.G83R|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83R|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83R|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83R|MAPT_ENST00000340799.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	83					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGTGGATGAGGGAGCTCCCGG	0.627000													10	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229160	21229160	+	Missense_Mutation	SNP	C	C	G	rs5742904	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:21229160C>G	ENST00000233242.1	-	26	10707	c.10580G>C	c.(10579-10581)cGg>cCg	p.R3527P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3527			R -> Q (in FDB; dbSNP:rs5742904).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAAGACCGTGTGCTCTT	0.428000													48	76					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580036	153580036	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153580036G>A	ENST00000422373.1	-	42	7160	c.6912C>T	c.(6910-6912)aaC>aaT	p.N2304N	FLNA_ENST00000369850.3_Silent_p.N2312N|FLNA_ENST00000360319.4_Silent_p.N2304N|FLNA_ENST00000369856.3_Silent_p.N445N|FLNA_ENST00000344736.4_Silent_p.N2272N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2312					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TGTGTTCCTCGTTGAACTTGA	0.607000													30	40					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11521554	11521554	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11521554G>A	ENST00000423059.3	-	7	2129	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	626						integral to membrane		p.A626A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGCATCACAGGCCACAGGGA	0.507000										HNSCC(18;0.044)			25	39					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215889	140215889	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140215889G>A	ENST00000525929.1	+	1	1921	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D641N|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGAGACGGACGCACCGCG	0.652000													38	53					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453137	89453137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:89453137G>A	ENST00000539437.1	-	3	203	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.P31S|MFGE8_ENST00000566497.1_Missense_Mutation_p.P31S|MFGE8_ENST00000268150.8_Missense_Mutation_p.P31S|MFGE8_ENST00000542878.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	31					angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TTGTGGCAGGGGTTTTTGGAA	0.547000													31	68					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111290823	111290823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:111290823C>T	ENST00000458711.2	+	6	611	c.599C>T	c.(598-600)tCc>tTc	p.S200F	CARKD_ENST00000309957.2_Silent_p.L376L|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.S221F			Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	331	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						ACCACCACCTCCGACATGATC	0.637000													24	57					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70866593	70866593	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70866593T>G	ENST00000322773.4	+	34	2372	c.2270T>G	c.(2269-2271)aTa>aGa	p.I757R	COL19A1_ENST00000393344.1_Missense_Mutation_p.I379R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	757	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACCCTGGGATACCTGGGGAG	0.368000													3	9					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954593	38954593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38954593C>T	ENST00000306658.7	-	3	649	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498000													37	57					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488014	24488014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488014C>T	ENST00000264463.4	-	12	2632	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	709					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCCGGACGTCCGTGTTATCT	0.473000										HNSCC(23;0.051)			30	47					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68497581	68497581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:68497581C>T	ENST00000322244.4	-	24	2247	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	730					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACTGCCATCTTTTAATCGT	0.294000													12	20					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270695	53270695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53270695C>T	ENST00000338230.3	-	3	581	c.314G>A	c.(313-315)gGt>gAt	p.G105D		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACCAATTTTACCTTTGATCTG	0.393000													66	92					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1229511	1229511	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1229511G>A	ENST00000354700.5	-	22	2410	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ACAP3_ENST00000353662.3_Silent_p.G661G	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	736					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCGCCCGGCCCCGGCTGT	0.716000													3	3					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56599549	56599549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:56599549C>T	ENST00000407595.2	+	4	1890	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	463										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGTCCAGAGCCCGGCGGGTC	0.522000													6	6					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45271237	45271237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:45271237C>T	ENST00000372201.4	+	15	2067	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	610	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCCCGAAATCGTAGTGCTTG	0.602000													39	132					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266768	1266768	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1266768C>T	ENST00000447027.1	+	31	8725	c.8667C>T	c.(8665-8667)ccC>ccT	p.P2889P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2886P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2886	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTACCCCATGCCGGGGC	0.677000													23	45					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062453	76062453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76062453G>A	ENST00000260045.3	-	5	1846	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	581					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCCACTGTTGGGACACTTAGG	0.423000													24	48					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44496896	44496896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44496896G>A	ENST00000425708.2	-	2	487	c.146C>T	c.(145-147)cCt>cTt	p.P49L	ZNF445_ENST00000396077.2_Missense_Mutation_p.P49L			P59923	ZN445_HUMAN	zinc finger protein 445	49					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCCTGGCCAGGGCGGTTGAG	0.587000													44	74					0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20302328	20302328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:20302328C>T	ENST00000375111.3	-	6	572	c.301G>A	c.(301-303)Gac>Aac	p.D101N	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.D101N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	101					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGGAGTCCTGTTTTGCT	0.423000													20	22					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53560984	53560984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:53560984G>A	ENST00000342160.3	-	82	13463	c.13006C>T	c.(13006-13008)Cct>Tct	p.P4336S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P4336S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4336	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAGCTGAAGGCAGGCGATCT	0.483000													38	69					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150943158	150943158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150943158G>C	ENST00000261800.5	-	2	3314	c.3302C>G	c.(3301-3303)tCt>tGt	p.S1101C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1101	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTAGTAAGATGCAAATTC	0.468000													22	28					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43832356	43832356	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:43832356C>T	ENST00000402924.1	+	6	460	c.297C>T	c.(295-297)ccC>ccT	p.P99P	BLVRA_ENST00000265523.4_Silent_p.P99P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	99					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGGAATACCCCATGACACTGT	0.468000													14	27					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153228798	153228798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153228798G>A	ENST00000310441.7	-	4	1556	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HCFC1_ENST00000354233.3_Missense_Mutation_p.P197L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	197					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGGTGGTGGTAGGACCCC	0.542000													44	79					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40961127	40961127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40961127C>T	ENST00000372706.1	+	6	1983	c.977C>T	c.(976-978)cCc>cTc	p.P326L	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.P326L					ZFP69 zinc finger protein																		GGTGAGAAACCCTTTGAATGT	0.438000													26	25					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377191	104377191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:104377191G>A	ENST00000535008.1	+	4	639	c.515G>A	c.(514-516)tGt>tAt	p.C172Y	LHFPL3_ENST00000401970.2_Missense_Mutation_p.C158Y|LHFPL3_ENST00000543266.1_Missense_Mutation_p.C172Y|LHFPL3_ENST00000424859.1_Missense_Mutation_p.C158Y			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	158						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AAACGGATGTGTGGAGAAAAG	0.458000													10	21					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263792	1263792	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1263792G>A	ENST00000447027.1	+	31	5749	c.5691G>A	c.(5689-5691)acG>acA	p.T1897T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T1894T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1894	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTCCACGGCCACGCCCT	0.612000													34	65					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64141332	64141340	+	In_Frame_Del	DEL	AGACGAGTA	AGACGAGTA	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:64141332_64141340delAGACGAGTA	ENST00000354504.3	-	14	2440_2448	c.1851_1859delTACTCGTCT	c.(1849-1860)ctg>ct	p.LTRL617del	VPS54_ENST00000409558.3_In_Frame_Del_p.LTRL758del|VPS54_ENST00000272322.4_In_Frame_Del_p.LTRL770del			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	770					protein transport|retrograde transport, endosome to Golgi			p.R772S(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAATCTGACAGACGAGTAAGCATGTCAG	0.335													14	70	---	---	---	---					
RBM4B	83759	broad.mit.edu	37	11	66444242	66444243	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66444242_66444243delCG	ENST00000525754.1	-	1	976_977	c.308_309delCG	c.(307-309)cfs	p.P103fs	RBM4B_ENST00000524637.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000310046.4_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531969.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531036.2_Frame_Shift_Del_p.P103fs			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	103	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						ATTCGATGACCGGACCATACTC	0.500													51	146	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824518	74824518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74824518delC	ENST00000256362.4	+	2	1273	c.1032delC	c.(1030-1032)cgfs	p.R344fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	344					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGATCTCCCGCTCAACCTACT	0.657													32	54	---	---	---	---					
SRSF1	6426	broad.mit.edu	37	17	56084325	56084326	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56084325_56084326insA	ENST00000582730.2	-	1	296_297	c.173_174insT	c.(172-174)tgtfs	p.C58fs	SRSF1_ENST00000585096.1_Frame_Shift_Ins_p.C58fs|SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.C58fs|SRSF1_ENST00000258962.4_Frame_Shift_Ins_p.C58fs	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	58	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAACTCAACGAAGGCGAAGGG	0.579													49	90	---	---	---	---					
TNPO2	30000	broad.mit.edu	37	19	12829917	12829917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12829917delG	ENST00000425528.1	-	5	608	c.251delC	c.(250-252)ctfs	p.P84fs	TNPO2_ENST00000588216.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000441499.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000450764.2_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000356861.5_Frame_Shift_Del_p.P84fs			O14787	TNPO2_HUMAN	transportin 2	84	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTGCCACAGGGGGTGGGAA	0.577													53	82	---	---	---	---					
