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
ABCC8	6833	broad.mit.edu	37	11	17426127	17426127	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:17426127G>A	ENST00000302539.4	-	28	3617	c.3492C>T	c.(3490-3492)ttC>ttT	p.F1164F	ABCC8_ENST00000389817.3_Silent_p.F1163F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1163	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGCCACGAGGAACACAGGTG	0.627000													17	96					0	0	0.160694	0	0
DLAT	1737	broad.mit.edu	37	11	111916646	111916646	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:111916646C>T	ENST00000280346.6	+	10	2009	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DLAT_ENST00000393051.1_Silent_p.I345I|DLAT_ENST00000537636.1_Silent_p.I221I	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	450	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ACCTTTCTATCGATGTAAATA	0.299000													10	54					0	0	0.069234	0	0
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:167162315C>T	ENST00000375387.4	-	5	926	c.586G>A	c.(586-588)Gtc>Atc	p.V196I	SCN9A_ENST00000409435.1_Missense_Mutation_p.V195I|SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000303354.6_Missense_Mutation_p.V196I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398000													13	44					0	0	0.119110	0	0
AKAP10	11216	broad.mit.edu	37	17	19835244	19835244	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:19835244C>T	ENST00000225737.6	-	10	1672	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	505	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGAGATCATTCAAATATTTAT	0.418000													15	107					0	0	0.132662	0	0
PLCB3	5331	broad.mit.edu	37	11	64033385	64033385	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:64033385G>A	ENST00000540288.1	+	26	3166	c.3063G>A	c.(3061-3063)acG>acA	p.T1021T	PLCB3_ENST00000325234.5_Silent_p.T954T|PLCB3_ENST00000279230.6_Silent_p.T1021T	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1021					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGAGGACACGAAGGAGGGGG	0.662000													21	29					0	0	0.062417	0	0
MTHFSD	64779	broad.mit.edu	37	16	86585794	86585794	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:86585794G>A	ENST00000381214.5	-	3	246	c.228C>T	c.(226-228)ttC>ttT	p.F76F	MTHFSD_ENST00000360900.6_Intron|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.F75F	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	76					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						CTTCAAGGACGAAGAAGCGAG	0.488000													42	29					0	0	0.086207	0	0
BCKDK	10295	broad.mit.edu	37	16	31122691	31122691	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:31122691G>A	ENST00000394951.1	+	11	1539	c.916G>A	c.(916-918)Gat>Aat	p.D306N	BCKDK_ENST00000394950.3_Missense_Mutation_p.D306N|BCKDK_ENST00000219794.6_Missense_Mutation_p.D306N|BCKDK_ENST00000287507.3_Intron			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	306	Histidine kinase.				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						CGCCAACAATGATGTCGATCT	0.507000													17	68					0	0	0.049695	0	0
ABCA10	10349	broad.mit.edu	37	17	67186544	67186544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:67186544C>A	ENST00000269081.4	-	19	2995	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	696					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGAATACTTCATTCAGAGAT	0.333000													19	98					3.51602e-12	4.04178e-12	0.049695	1	0
MTMR10	54893	broad.mit.edu	37	15	31234209	31234209	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr15:31234209C>T	ENST00000435680.1	-	16	1895	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	600	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGAAGTAATTCTTGGTCACTG	0.408000													9	320					0	0	0.047766	0	0
SVEP1	79987	broad.mit.edu	37	9	113168736	113168736	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:113168736G>A	ENST00000401783.2	-	38	9480	c.9144C>T	c.(9142-9144)gcC>gcT	p.A3048A	SVEP1_ENST00000374469.1_Silent_p.A3025A|SVEP1_ENST00000297826.5_Silent_p.A974A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3048	Sushi 27.				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						ACTGGCCATCGGCTTCACAGG	0.498000													49	31					0	0	0.139131	0	0
PPL	5493	broad.mit.edu	37	16	4947769	4947769	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:4947769C>T	ENST00000345988.2	-	9	968	c.879G>A	c.(877-879)gcG>gcA	p.A293A	PPL_ENST00000590782.2_Silent_p.A291A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	293					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTCCATGTGCGCCTGCCAGG	0.612000													3	28					0	0	0.115264	0	0
THBS2	7058	broad.mit.edu	37	6	169648954	169648954	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:169648954C>T	ENST00000366787.3	-	4	416	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	56	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCGCACGAAGCGGTAAGCCGG	0.587000													14	31					0	0	0.119110	0	0
PRR16	51334	broad.mit.edu	37	5	120021719	120021719	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:120021719C>T	ENST00000379551.2	+	3	518	c.161C>T	c.(160-162)aCg>aTg	p.T54M	PRR16_ENST00000505123.1_Missense_Mutation_p.T7M|PRR16_ENST00000446965.1_Missense_Mutation_p.T7M|PRR16_ENST00000407149.2_Missense_Mutation_p.T77M	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	77								p.T54M(1)		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)		AGCTCCAAAACGGACACGCTG	0.502000													30	85					0	0	0.134883	0	0
UTRN	7402	broad.mit.edu	37	6	145069596	145069596	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:145069596G>A	ENST00000367545.3	+	54	8154	c.8154G>A	c.(8152-8154)aaG>aaA	p.K2718K	UTRN_ENST00000367526.4_Silent_p.K273K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2718					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)		ATGGCTGGAAGCCCGTGGGAG	0.473000													3	60					0	0	0.115264	0	0
FNBP1	23048	broad.mit.edu	37	9	132691881	132691881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:132691881C>A	ENST00000420781.1	-	7	825	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	FNBP1_ENST00000446176.2_Nonsense_Mutation_p.E203*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.E203*			Q96RU3	FNBP1_HUMAN	formin binding protein 1	203	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)		TGGTAATATTCATGCTGCTCA	0.423000			T	MLL	AML								4	142					0.00909568	0.010079	0.150653	1	0
HECTD3	79654	broad.mit.edu	37	1	45475780	45475780	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:45475780T>C	ENST00000372172.4	-	4	708	c.637A>G	c.(637-639)Aca>Gca	p.T213A		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	213					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TAGGTCCATGTCGGGGGTACA	0.567000													21	85					0	0	0.049695	0	0
GNAS	2778	broad.mit.edu	37	20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron	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)			GCCCATCCCCGTCGAGAATGA	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	39					0	0	0.058154	0	0
ATG16L1	55054	broad.mit.edu	37	2	234171780	234171780	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:234171780G>A	ENST00000392017.4	+	3	471	c.214G>A	c.(214-216)Gga>Aga	p.G72R	ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	72					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTTAGTCCCGGACATGATGG	0.438000													7	31					0	0	0.029380	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840150	27840150	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:27840150G>A	ENST00000356790.2	+	3	972	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	243	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CATGTTTGGGGAGCCCAGGAA	0.453000													6	54					0	0	0.021553	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116057015	116057015	+	Silent	SNP	G	G	A	rs150853765	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr10:116057015G>A	ENST00000369271.3	-	17	2571	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.T810T|AFAP1L2_ENST00000304129.4_Silent_p.T757T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	757					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)		TGGTGTCCACGGTGGTGCCTA	0.652000													18	52					0	0	0.160694	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961145	143961145	+	Missense_Mutation	SNP	C	C	T	rs144224988	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:143961145C>T	ENST00000292427.4	-	1	117	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	CYP11B1_ENST00000377675.3_Missense_Mutation_p.A29T|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A29T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	29					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGACCCGGGCGGCTCTCGTG	0.642000									Familial Hyperaldosteronism type I				42	218					0	0	0.111260	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159699	62159699	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:62159699C>T	ENST00000415229.2	+	7	1085	c.870C>T	c.(868-870)gaC>gaT	p.D290D	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Silent_p.D290D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	290					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCGCCAAGGACGGCAAGCTGC	0.532000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	84					0	0	0.139131	0	0
FUCA2	2519	broad.mit.edu	37	6	143825112	143825112	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:143825112G>A	ENST00000002165.5	-	3	745	c.690C>T	c.(688-690)gaC>gaT	p.D230D	FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	230					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTGCTCCTCCGTCACCATCCG	0.463000													15	35					0	0	0.132662	0	0
GRAMD4	23151	broad.mit.edu	37	22	47062766	47062766	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:47062766C>G	ENST00000406902.1	+	10	1067	c.854C>G	c.(853-855)cCc>cGc	p.P285R	GRAMD4_ENST00000361034.3_Missense_Mutation_p.P285R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	285					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GTGTCTGAGCCCGTGGTAAGT	0.617000													3	151					0	0	0.115264	0	0
SNRPB	6628	broad.mit.edu	37	20	2443804	2443804	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:2443804C>A	ENST00000339610.6	-	6	708	c.253G>T	c.(253-255)Gct>Tct	p.A85S	SNRPB_ENST00000381342.2_Missense_Mutation_p.A164S|SNRPB_ENST00000438552.2_Missense_Mutation_p.A164S			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	164					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGTTGGAGCCCCGGCAATA	0.592000													66	154					1.59627e-33	1.85227e-33	0.139131	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140347507G>A	ENST00000289269.5	+	1	1688	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		386	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557000													4	139					0	0	0.150653	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													5	19					1.23904e-05	1.39818e-05	0.014758	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412263	139412263	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:139412263C>T	ENST00000277541.6	-	8	1457	c.1382G>A	c.(1381-1383)tGc>tAc	p.C461Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	461	EGF-like 12; 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)		GTCGTTCTGGCACGGGTTCGA	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			52	27					0	0	0.139131	0	0
DOCK5	80005	broad.mit.edu	37	8	25159858	25159858	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:25159858C>T	ENST00000276440.7	+	10	908	c.864C>T	c.(862-864)gaC>gaT	p.D288D	DOCK5_ENST00000481100.1_Silent_p.D288D	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	288						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGCATGGACCTCATCCGGC	0.557000													24	27					0	0	0.116897	0	0
BTNL2	56244	broad.mit.edu	37	6	32372831	32372831	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:32372831C>G	ENST00000454136.3	-	2	316	c.312G>C	c.(310-312)aaG>aaC	p.K104N	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.K104N|BTNL2_ENST00000429232.2_Missense_Mutation_p.K104N|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.K104N			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	104	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCACATTTCCCTTTGCAATGC	0.507000													55	95					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179582457	179582457	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:179582457G>A	ENST00000589042.1	-	87	25368	c.25144C>T	c.(25144-25146)Cgc>Tgc	p.R8382C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8065C|TTN_ENST00000342992.6_Missense_Mutation_p.R7138C|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8065	Ig-like 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)			CCATTGATGCGGCATTCAAAT	0.413000													6	46					0	0	0.021553	0	0
CROT	54677	broad.mit.edu	37	7	87027901	87027901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:87027901C>T	ENST00000331536.3	+	18	1965	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	CROT_ENST00000419147.2_Nonsense_Mutation_p.Q622*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	594					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAAGCTAGTTCAGCTGACTTT	0.373000													20	70					0	0	0.043863	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													26	105					0	0	0.134883	0	0
CTTN	2017	broad.mit.edu	37	11	70260656	70260656	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:70260656C>T	ENST00000301843.8	+	6	506	c.300C>T	c.(298-300)gtC>gtT	p.V100V	CTTN_ENST00000376561.3_Silent_p.V100V|CTTN_ENST00000346329.3_Silent_p.V100V	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	100						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGTCAGCTGTCGGCCACGAAT	0.557000													17	89					0	0	0.160694	0	0
FOXN1	8456	broad.mit.edu	37	17	26851658	26851658	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:26851658C>T	ENST00000226247.2	+	2	290	c.261C>T	c.(259-261)ggC>ggT	p.G87G	FOXN1_ENST00000579795.1_Silent_p.G87G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	87					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)					CCGGCCCCGGCCCTGGGCCCT	0.682000													18	93					0	0	0.055883	0	0
ACOXL	55289	broad.mit.edu	37	2	111666365	111666365	+	Splice_Site	SNP	G	G	A	rs2974746		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:111666365G>A	ENST00000389811.4	+	11	1012		c.e11-1		ACOXL_ENST00000439055.1_Splice_Site			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATTCCCTCTAGCCGGAGGCAG	0.522000													23	79					0	0	0.062417	0	0
CLUH	23277	broad.mit.edu	37	17	2604101	2604101	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:2604101G>A	ENST00000570628.1	-	8	1035	c.930C>T	c.(928-930)ttC>ttT	p.F310F	CLUH_ENST00000435359.1_Silent_p.F310F|CLUH_ENST00000575014.1_Silent_p.F242F|CLUH_ENST00000538975.1_Silent_p.F310F					clustered mitochondria (cluA/CLU1) homolog																		CGATCCTCTCGAACGGGTGGC	0.682000													16	42					0	0	0.043863	0	0
BMP2K	55589	broad.mit.edu	37	4	79792071	79792071	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr4:79792071C>T	ENST00000335016.5	+	11	1532	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	BMP2K_ENST00000502871.1_Missense_Mutation_p.R456C	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	456	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTACAGCATCGTCATCCTCA	0.567000													4	35					0	0	0.150653	0	0
GPATCH2	55105	broad.mit.edu	37	1	217665079	217665079	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:217665079C>T	ENST00000366935.3	-	8	1330	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	GPATCH2_ENST00000489246.2_5'UTR	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	407						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCGATTATCTCTCAGAAGCTG	0.313000													16	84					0	0	0.175082	0	0
MAGI3	260425	broad.mit.edu	37	1	114092242	114092242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:114092242G>A	ENST00000369615.1	+	2	484	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MAGI3_ENST00000307546.9_Missense_Mutation_p.R141K|MAGI3_ENST00000369611.4_Missense_Mutation_p.R141K|MAGI3_ENST00000369617.4_Missense_Mutation_p.R141K|MAGI3_ENST00000486456.1_3'UTR	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	141	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTACTTGAGAACCATTCCA	0.338000													4	78					0	0	0.150653	0	0
GHSR	2693	broad.mit.edu	37	3	172165615	172165615	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:172165615C>T	ENST00000241256.2	-	1	631	c.589G>A	c.(589-591)Gag>Aag	p.E197K	GHSR_ENST00000427970.1_Missense_Mutation_p.E197K	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	197					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)			GGGCGGCACTCGTTGGTGTCC	0.622000													17	76					0	0	0.043863	0	0
MROH2B	133558	broad.mit.edu	37	5	41008798	41008798	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:41008798G>A	ENST00000399564.4	-	33	3968	c.3518C>T	c.(3517-3519)aCa>aTa	p.T1173I	MROH2B_ENST00000506092.2_Missense_Mutation_p.T728I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTGGCCCAGTGTGCAGCTAAC	0.567000													25	55					0	0	0.076483	0	0
SCN5A	6331	broad.mit.edu	37	3	38647495	38647495	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:38647495C>T	ENST00000413689.1	-	10	1478	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	SCN5A_ENST00000414099.2_Missense_Mutation_p.E429K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E429K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E429K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E429K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E429K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E429K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E429K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E429K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E429K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	429					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)	TTTTCCTTCTCCTCGGTCTCA	0.567000													4	143					0	0	0.014758	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129405	68129405	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:68129405G>A	ENST00000585558.1	+	4	1670	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KCNJ16_ENST00000392671.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000392670.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000283936.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000586462.1_Missense_Mutation_p.A432T|KCNJ16_ENST00000589377.1_Missense_Mutation_p.A393T			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	393					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)					CACCACTTCCGCCACACATGA	0.458000													23	107					0	0	0.062417	0	0
SALL3	27164	broad.mit.edu	37	18	76753935	76753935	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:76753935G>A	ENST00000536229.3	+	1	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SALL3_ENST00000575389.2_Silent_p.P648P|SALL3_ENST00000537592.2_Silent_p.P648P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P648P(1)		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)		CCCAGTTTCCGTTCGGGGGGC	0.652000													3	15					0	0	0.115264	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731948	140731948	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140731948C>T	ENST00000523390.1	+	1	2121	c.2121C>T	c.(2119-2121)atC>atT	p.I707I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGCGATCGCCCTGCGCC	0.617000													61	214					0	0	0.139131	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248820	140248820	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140248820C>T	ENST00000398640.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.652000													47	138					0	0	0.139131	0	0
KIF21B	23046	broad.mit.edu	37	1	200950187	200950187	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:200950187G>A	ENST00000332129.2	-	28	4157	c.3841C>T	c.(3841-3843)Cgg>Tgg	p.R1281W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1294W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1281W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1294W	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	1294					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						GGGGCCGTCCGTGCACCCTTG	0.622000													52	64					0	0	0.139131	0	0
TXNRD1	7296	broad.mit.edu	37	12	104719127	104719127	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:104719127G>A	ENST00000526691.1	+	9	1390	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	TXNRD1_ENST00000542918.1_Missense_Mutation_p.E310K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000529546.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E329K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E304K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E410K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E260K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E260K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E410K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E375K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E304K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E312K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E359K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E260K	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	410					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGAACAAATTGAAGCAGGGAC	0.418000													5	23					0	0	0.014758	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266897	85266897	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:85266897C>T	ENST00000266682.5	-	7	1619	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SLC6A15_ENST00000309283.7_Missense_Mutation_p.A68T|SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A253T	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	360					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATGACATTTGCTTTGAAGCCC	0.343000													13	72					0	0	0.119110	0	0
ACR	49	broad.mit.edu	37	22	51183225	51183225	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:51183225G>A	ENST00000216139.5	+	5	896	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	286	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGATCGCCTCCAAGAT	0.622000													9	12					0	0	0.058154	0	0
PGS1	9489	broad.mit.edu	37	17	76388715	76388715	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:76388715C>T	ENST00000262764.6	+	2	328	c.302C>T	c.(301-303)tCt>tTt	p.S101F	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	101					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGGGTGCTTTCTTCCCCGGCA	0.502000													27	141					0	0	0.153744	0	0
NFATC1	4772	broad.mit.edu	37	18	77246917	77246917	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:77246917A>G	ENST00000329101.4	+	9	2779	c.2723A>G	c.(2722-2724)gAc>gGc	p.D908G	NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.D449G|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.D921G|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	921	Trans-activation domain B (TAD-B).				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)		GAAGAGTTGGACCAGTTGTAC	0.637000													3	122					0	0	0.115264	0	0
ASAP3	55616	broad.mit.edu	37	1	23763755	23763755	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:23763755C>T	ENST00000336689.3	-	14	1254	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ASAP3_ENST00000437606.2_Missense_Mutation_p.E395K|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	404					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCGCTGGGCTCCCCGAGGAAG	0.662000													5	15					0	0	0.021553	0	0
PAG1	55824	broad.mit.edu	37	8	81897445	81897445	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:81897445C>T	ENST00000220597.4	-	7	1152	c.442G>A	c.(442-444)Gcg>Acg	p.A148T		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	148					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACACTTCTCGCCGTGAGCATG	0.577000													14	129					0	0	0.132662	0	0
CD1A	909	broad.mit.edu	37	1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463000													8	123					0	0	0.038147	0	0
FRMPD3	84443	broad.mit.edu	37	X	106796098	106796098	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:106796098C>T	ENST00000276185.4	+	8	683	c.683C>T	c.(682-684)gCc>gTc	p.A228V	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	228	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTTGAGTATGCCGGGCCAGAA	0.468000													3	34					0	0	0.115264	0	0
FBXO43	286151	broad.mit.edu	37	8	101153320	101153320	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:101153320G>A	ENST00000428847.2	-	2	1478	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	388					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTGTTCCCGAAGGGTGGAC	0.483000													61	281					0	0	0.139131	0	0
RPN2	6185	broad.mit.edu	37	20	35827572	35827572	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:35827572C>T	ENST00000237530.6	+	4	734	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RPN2_ENST00000373622.5_Silent_p.S109S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	141					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCTTGGCATCCCAAGAAGCAC	0.527000													11	254					0	0	0.069234	0	0
ABCA7	10347	broad.mit.edu	37	19	1058700	1058700	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:1058700C>T	ENST00000263094.6	+	38	5464	c.5233C>T	c.(5233-5235)Ctt>Ttt	p.L1745F	ABCA7_ENST00000435683.2_Missense_Mutation_p.L1607F|ABCA7_ENST00000433129.1_Missense_Mutation_p.L1745F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1745					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)		GCCCCTCTTCCTTCTCTTCAC	0.572000													31	189					0	0	0.134883	0	0
EFCAB13	124989	broad.mit.edu	37	17	45473259	45473259	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:45473259G>A	ENST00000331493.2	+	17	2272	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.D525N	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GAGTGTTTCTGACCTGTGGAA	0.373000													27	112					0	0	0.099896	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473666	145473666	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:145473666C>G	ENST00000323397.4	+	4	1631	c.338C>G	c.(337-339)tCg>tGg	p.S113W		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	113										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGGCGCCTCGGCTCTTGTC	0.711000													15	42					0	0	0.119110	0	0
SIK1	150094	broad.mit.edu	37	21	44841623	44841623	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr21:44841623G>T	ENST00000270162.6	-	5	526	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	132	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GACAGGATTTGCCAGAACTTC	0.552000													15	36					2.32078e-09	2.64312e-09	0.132662	1	0
PCNXL2	80003	broad.mit.edu	37	1	233270852	233270852	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:233270852C>T	ENST00000258229.8	-	21	3978	c.3744G>A	c.(3742-3744)ttG>ttA	p.L1248L	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.L381L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1248						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGTGAAGCTCAAGTTAATAA	0.398000													13	50					0	0	0.105934	0	0
MFGE8	4240	broad.mit.edu	37	15	89450552	89450552	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr15:89450552G>A	ENST00000539437.1	-	4	373	c.237C>T	c.(235-237)gcC>gcT	p.A79A	MFGE8_ENST00000268151.7_Silent_p.A87A|MFGE8_ENST00000268150.8_Silent_p.A87A|MFGE8_ENST00000542878.1_Silent_p.A43A|MFGE8_ENST00000566497.1_Silent_p.A87A|MFGE8_ENST00000559997.1_5'UTR			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	87	F5/8 type C 1.				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)					CAGACGAGGCGGCGATCTGTG	0.617000													23	38					0	0	0.069288	0	0
CHGA	1113	broad.mit.edu	37	14	93393911	93393911	+	Silent	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr14:93393911C>A	ENST00000216492.5	+	4	484	c.204C>A	c.(202-204)tcC>tcA	p.S68S	CHGA_ENST00000334654.4_Silent_p.S68S|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	68					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGATCCTTTCCATTCTGAGAC	0.443000													5	295					0.014758	0.0162074	0.014758	1	0
KRT39	390792	broad.mit.edu	37	17	39122694	39122694	+	Silent	SNP	G	G	A	rs144576097	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:39122694G>A	ENST00000355612.2	-	1	450	c.415C>T	c.(415-417)Cta>Tta	p.L139L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	139	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TCAGGACATAGAACAGGGAGC	0.423000													55	189					0	0	0.139131	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621447	112621447	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:112621447G>T	ENST00000341068.3	-	9	1629	c.857C>A	c.(856-858)tCt>tAt	p.S286Y		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCCTGTTCAGAGAACTTTAA	0.398000													3	30					0.115264	0.125464	0.115264	1	0
RBM15	64783	broad.mit.edu	37	1	110882129	110882129	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:110882129C>T	ENST00000369784.3	+	1	1002	c.102C>T	c.(100-102)ctC>ctT	p.L34L	RBM15_ENST00000602849.1_Silent_p.L34L|RBM15_ENST00000487146.2_Silent_p.L34L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	34					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)		TTACTCAGCTCCGCGGAGACG	0.677000			T	MKL1	acute megakaryocytic leukemia								14	36					0	0	0.105934	0	0
VRK3	51231	broad.mit.edu	37	19	50482394	50482394	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:50482394C>T	ENST00000599538.1	-	14	2046	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	VRK3_ENST00000601341.1_Missense_Mutation_p.R411H|VRK3_ENST00000443401.2_Missense_Mutation_p.R230H|VRK3_ENST00000594948.1_Missense_Mutation_p.R461H|VRK3_ENST00000377011.2_Missense_Mutation_p.R411H|VRK3_ENST00000316763.3_Missense_Mutation_p.R461H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	461						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGAGACACACGCAGATCCTG	0.572000													53	113					0	0	0.139131	0	0
OIT3	170392	broad.mit.edu	37	10	74673159	74673159	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr10:74673159G>A	ENST00000334011.5	+	6	1102	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	295	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACCTCCTGCCGAGGAGTGTCC	0.542000													62	149					0	0	0.139131	0	0
CRNN	49860	broad.mit.edu	37	1	152382225	152382225	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:152382225C>T	ENST00000271835.3	-	3	1395	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	445					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGAGTGGTCATCAACCCAT	0.577000													25	87					0	0	0.076483	0	0
LRP6	4040	broad.mit.edu	37	12	12315147	12315147	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:12315147G>A	ENST00000261349.4	-	10	2335	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	LRP6_ENST00000543091.1_Silent_p.L753L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	753	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCCAACGCGAGAGCTCTGG	0.478000													13	199					0	0	0.119110	0	0
FCRLB	127943	broad.mit.edu	37	1	161692465	161692465	+	Translation_Start_Site	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:161692465G>A	ENST00000367948.2	+	3	218	c.3G>A	c.(1-3)atG>atA	p.M1I	FCRLB_ENST00000336830.5_Start_Codon_SNP_p.M1I|FCRLB_ENST00000392158.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367944.3_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367945.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367946.3_Start_Codon_SNP_p.M1I			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	1						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GATCCATCATGTGGCCACTGA	0.557000													84	250					0	0	0.139131	0	0
ANO4	121601	broad.mit.edu	37	12	101480443	101480443	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:101480443C>T	ENST00000392979.3	+	16	1798	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	ANO4_ENST00000550015.1_Silent_p.C34C|ANO4_ENST00000392977.3_Silent_p.C514C|ANO4_ENST00000299222.9_Silent_p.C34C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	514						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCAGATCTGCGTGGTGATTG	0.507000										HNSCC(74;0.22)			9	672					0	0	0.058154	0	0
CILP2	148113	broad.mit.edu	37	19	19654523	19654523	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:19654523G>A	ENST00000586018.1	+	8	1289	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CILP2_ENST00000291495.4_Missense_Mutation_p.R390Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	390						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCCGGCCCCGAGAGTACCTG	0.662000													125	491					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9065980	9065980	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:9065980T>C	ENST00000397910.4	-	3	21669	c.21466A>G	c.(21466-21468)Agc>Ggc	p.S7156G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7158	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						GAAGTGTGGCTCAGCTTTGGA	0.502000													32	139					0	0	0.144211	0	0
WDR53	348793	broad.mit.edu	37	3	196288329	196288329	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:196288329C>T	ENST00000332629.5	-	3	585	c.18G>A	c.(16-18)acG>acA	p.T6T	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	6										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AATGCCCACCCGTCCACTTGA	0.522000													15	89					0	0	0.160694	0	0
DHX34	9704	broad.mit.edu	37	19	47856613	47856613	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:47856613C>T	ENST00000328771.4	+	2	675	c.326C>T	c.(325-327)tCt>tTt	p.S109F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	109						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATCAACCTCTCTGTTCTTGGC	0.637000													52	282					0	0	0.139131	0	0
TBPL2	387332	broad.mit.edu	37	14	55903726	55903726	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr14:55903726G>A	ENST00000247219.5	-	2	231	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	54					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCTGGGTGGGGCAAGGCCATC	0.483000													4	202					0	0	0.021553	0	0
IFFO1	25900	broad.mit.edu	37	12	6665033	6665033	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:6665033C>T	ENST00000336604.4	-	1	204	c.163G>A	c.(163-165)Ggg>Agg	p.G55R	IFFO1_ENST00000356896.4_Missense_Mutation_p.G55R|IFFO1_ENST00000396840.2_Missense_Mutation_p.G55R	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	55						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						gggcccggcccgggcggcgAG	0.726000													4	64					0	0	0.150653	0	0
FDXR	2232	broad.mit.edu	37	17	72862630	72862630	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:72862630C>T	ENST00000455107.2	-	5	615	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	FDXR_ENST00000582944.1_Missense_Mutation_p.V103M|FDXR_ENST00000544854.1_Missense_Mutation_p.V59M|FDXR_ENST00000442102.2_Missense_Mutation_p.V154M|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000293195.5_Missense_Mutation_p.V111M|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.V111M|FDXR_ENST00000413947.2_Missense_Mutation_p.V142M|FDXR_ENST00000583917.1_Missense_Mutation_p.V112M			P22570	ADRO_HUMAN	ferredoxin reductase	111					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCACCTCCACGTTGCCCCAG	0.652000													18	44					0	0	0.049695	0	0
ARF5	381	broad.mit.edu	37	7	127231136	127231136	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:127231136C>T	ENST00000000233.5	+	5	604	c.450C>T	c.(448-450)agC>agT	p.S150S	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	150					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ACTTACGCAGCCGCACGGTAG	0.577000													13	192					0	0	0.105934	0	0
RYR2	6262	broad.mit.edu	37	1	237895442	237895442	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:237895442G>A	ENST00000366574.2	+	78	11349	c.11032G>A	c.(11032-11034)Gag>Aag	p.E3678K	RYR2_ENST00000542537.1_Missense_Mutation_p.E3662K|RYR2_ENST00000360064.6_Missense_Mutation_p.E3676K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					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.E3676*(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)			AGCTTTAACAGAGAAATGGTA	0.453000													11	74					0	0	0.080935	0	0
CCDC17	149483	broad.mit.edu	37	1	46087966	46087966	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:46087966C>T	ENST00000421127.2	-	7	1030	c.887G>A	c.(886-888)cGc>cAc	p.R296H	CCDC17_ENST00000528266.1_Missense_Mutation_p.R305H|CCDC17_ENST00000464739.1_Intron|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.R273H	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	305										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TGCCTCCAAGCGCCGGTTTTC	0.582000													10	25					0	0	0.069234	0	0
PDE2A	5138	broad.mit.edu	37	11	72292993	72292993	+	Splice_Site	SNP	T	T	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:72292993T>C	ENST00000334456.5	-	22	2097		c.e22-2		PDE2A_ENST00000376450.3_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000418754.2_Splice_Site|PDE2A_ENST00000544570.1_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGGATGGCCTGGAGAGGGCA	0.567000													3	65					0	0	0.150653	0	0
GPR179	440435	broad.mit.edu	37	17	36491542	36491542	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:36491542G>A	ENST00000342292.4	-	6	1358	c.1338C>T	c.(1336-1338)atC>atT	p.I446I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	446						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)				AGCGAAGAGCGATGCAGCGGA	0.547000													15	63					0	0	0.175082	0	0
EPHX2	2053	broad.mit.edu	37	8	27398085	27398085	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:27398085A>G	ENST00000521400.1	+	15	1721	c.1291A>G	c.(1291-1293)Aat>Gat	p.N431D	EPHX2_ENST00000518379.1_Missense_Mutation_p.N399D|EPHX2_ENST00000517536.1_Missense_Mutation_p.N248D|EPHX2_ENST00000380476.3_Missense_Mutation_p.N378D|EPHX2_ENST00000521780.1_Missense_Mutation_p.N365D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	431	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ACTTTTTGTAAATAGCCCAGA	0.502000													43	91					0	0	0.139131	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595079	140595079	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140595079G>A	ENST00000341948.4	+	1	1571	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		462	Cadherin 5.				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)			GTTCGTCCGCGAGAACAACAG	0.602000													27	186					0	0	0.153744	0	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													8	287					0.00307968	0.00344364	0.038147	1	0
GLT6D1	360203	broad.mit.edu	37	9	138516492	138516492	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:138516492C>T	ENST00000371763.1	-	5	535	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	94					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGTAGGAACGGCCTCAGGT	0.418000													22	84					0	0	0.083992	0	0
FBXL18	80028	broad.mit.edu	37	7	5521496	5521496	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:5521496G>A	ENST00000382368.3	-	5	2190	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D		NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCCGGATGACGTCGGTCAGGC	0.617000													64	161					0	0	0.139131	0	0
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A	rs149760238	by1000genomes	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622000													5	136					0	0	0.021553	0	0
CLEC18C	283971	broad.mit.edu	37	16	70211272	70211272	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:70211272G>A	ENST00000569347.2	+	3	599	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000536907.2_Silent_p.A115A|CLEC18C_ENST00000314151.8_Silent_p.A115A	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						TGCTGCCCGCGGGCTTGGCGT	0.662000													4	128					0	0	0.029380	0	0
C19orf66	55337	broad.mit.edu	37	19	10202783	10202783	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:10202783G>A	ENST00000397881.3	+	8	1005	c.528G>A	c.(526-528)aaG>aaA	p.K176K	C19orf66_ENST00000591813.1_Silent_p.K191K|C19orf66_ENST00000253110.11_Silent_p.K227K			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	227										large_intestine(3)|skin(1)	4						CTCACCCCAAGAGCCGGAAGC	0.642000													29	139					0	0	0.134883	0	0
MYH3	4621	broad.mit.edu	37	17	10558189	10558189	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:10558189C>T	ENST00000583535.1	-	3	280	c.193G>A	c.(193-195)Gag>Aag	p.E65K	MYH3_ENST00000226209.7_Missense_Mutation_p.E65K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	65	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						CTGTTGTCCTCAGTTTCCACA	0.537000													84	300					0	0	0.139131	0	0
ASAP3	55616	broad.mit.edu	37	1	23759729	23759729	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:23759729C>T	ENST00000336689.3	-	22	2208	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	ASAP3_ENST00000437606.2_Missense_Mutation_p.A713T|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.A226T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	722					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CTCCCACTGGCCCAGTGAGCC	0.642000													39	148					0	0	0.074837	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	71					0	0	0.150653	0	0
GSDMA	284110	broad.mit.edu	37	17	38133088	38133088	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:38133088A>G	ENST00000301659.4	+	12	1233	c.1115A>G	c.(1114-1116)cAg>cGg	p.Q372R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	372					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACGATGGAACAGAACTTCCTG	0.517000													30	183					0	0	0.134883	0	0
WDR78	79819	broad.mit.edu	37	1	67390434	67390435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:67390434_67390435insC	ENST00000371026.3	-	1	135_136	c.80_81insG	c.(79-81)gcafs	p.A27fs	WDR78_ENST00000371022.3_Frame_Shift_Ins_p.A27fs|WDR78_ENST00000371023.3_Frame_Shift_Ins_p.A27fs|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	27										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCTTTTTTTGGCCGCCTCTGAA	0.639													7	231	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													8	47	---	---	---	---					
ZMYND10	51364	broad.mit.edu	37	3	50380780	50380781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:50380780_50380781insC	ENST00000231749.3	-	5	1739_1740	c.467_468insG	c.(466-468)gccfs	p.A156fs	ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.A156fs|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	156						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTCAGGGGGGCCACCACAGCC	0.604										TSP Lung(30;0.18)			7	150	---	---	---	---					
AC007106.1	0	broad.mit.edu	37	4	27984278	27984279	+	RNA	DEL	AC	AC	-			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr4:27984278_27984279delAC	ENST00000509666.1	-	0	395																											ataaacactgacacacacacac	0.446													3	6	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139244163	139244164	+	Frame_Shift_Ins	INS	-	-	C	rs150964582	by1000genomes	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:139244163_139244164insC	ENST00000440944.1	+	11	1623_1624	c.1403_1404insC	c.(1402-1404)gagfs	p.E468fs		NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	468	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCCGGGAGGGCAGCCACTCCC	0.708													5	8	---	---	---	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs145320037		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:6432090_6432092delTCC	ENST00000389906.2	-	2	585_587	c.486_488delGGA	c.(484-489)gat>ga	p.ED162del	APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													7	85	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													8	586	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													34	381	---	---	---	---					
CYP27B1	1594	broad.mit.edu	37	12	58158829	58158830	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:58158829_58158830insG	ENST00000228606.4	-	4	963_964	c.754_755insC	c.(754-756)cctfs	p.P252fs	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	252					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.R252C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCGGCAGAGGCGGCCCCAGGGC	0.609											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	175	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													8	0	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													8	432	---	---	---	---					
DENND6B	414918	broad.mit.edu	37	22	50751050	50751051	+	Frame_Shift_Ins	INS	-	-	C	rs146358653	by1000genomes	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:50751050_50751051insC	ENST00000413817.2	-	18	1532_1533	c.1461_1462insG	c.(1459-1464)cgttttfs	p.RF487fs		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		GACTTGAAAAACCGCCTGTGGG	0.658													3	3	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													5	7	---	---	---	---