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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CDK12	51755	broad.mit.edu	37	17	37627488	37627488	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:37627488T>A	uc010cvv.3	+	1	1989	c.1403T>A	c.(1402-1404)cTa>cAa	p.L468Q	CDK12_uc010wef.1_Missense_Mutation_p.L467Q|CDK12_uc002hrw.4_Missense_Mutation_p.L468Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	468					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTAACACATCTAAACACAGAG	0.383000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				120			48		0	0	0.045515	0	0
RBM6	10180	broad.mit.edu	37	3	50005960	50005960	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr3:50005960G>T	uc003cyc.3	+	2	1350	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	368					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCAAGACCAAGATAAGTCACA	0.463000														45			39		2.51541e-25	2.88224e-25	0.074837	1	0
NEB	4703	broad.mit.edu	37	2	152512859	152512859	+	Silent	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:152512859C>T	uc021vrb.1	-	46	6332	c.6303G>A	c.(6301-6303)gaG>gaA	p.E2101E	NEB_uc002txu.3_Silent_p.E2101E|NEB_uc021vrc.1_Silent_p.E2101E|NEB_uc010fnx.3_Silent_p.E2101E|NEB_uc021vrd.1_Silent_p.E2101E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2101					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.R2100L(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCTTGTACTCCCGATCAG	0.483000														81			57		0	0	0.048971	0	0
DMXL2	23312	broad.mit.edu	37	15	51783908	51783908	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr15:51783908G>A	uc010ufy.2	-	19	5045	c.4820C>T	c.(4819-4821)tCt>tTt	p.S1607F	DMXL2_uc002abf.3_Missense_Mutation_p.S1607F|DMXL2_uc010bfa.3_Missense_Mutation_p.S971F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1607						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTCAGCCTCAGAATGAAAAGC	0.388000														64			46		0	0	0.045515	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315014	67315014	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr16:67315014G>C	uc010cef.3	+	4	1039	c.740G>C	c.(739-741)gGa>gCa	p.G247A	PLEKHG4_uc002eso.4_Missense_Mutation_p.G247A|PLEKHG4_uc002esp.4_Missense_Mutation_p.G54A|PLEKHG4_uc002esq.4_Missense_Mutation_p.G247A|PLEKHG4_uc002esr.1_Missense_Mutation_p.G95A|PLEKHG4_uc002ess.4_Missense_Mutation_p.G247A|PLEKHG4_uc010ceg.3_Missense_Mutation_p.G166A	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	247					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGGCACTGGGACTGACAGTG	0.552000														45			54		0	0	0.048971	0	0
ROCK2	9475	broad.mit.edu	37	2	11354553	11354553	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:11354553C>T	uc002rbd.1	-	16	2422	c.1973G>A	c.(1972-1974)gGc>gAc	p.G658D		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	658	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.N657T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAAGATTTTGCCGTTCTTTAA	0.303000														65			3		0	0	0.009096	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														6			2		0	0	0.009096	0	0
AP1G1	164	broad.mit.edu	37	16	71789972	71789972	+	Silent	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr16:71789972C>T	uc010cgg.3	-	11	1493	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	AP1G1_uc021tkz.1_Silent_p.E181E|AP1G1_uc002fbb.3_Silent_p.E416E|AP1G1_uc021tky.1_Silent_p.E396E	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	393					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAAATTCTGGCTCACACGAAT	0.378000														71			52		0	0	0.048971	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														33			3		0	0	0.004672	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904083	21904083	+	RNA	SNP	C	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:21904083C>A	uc002gza.2	+	0		c.22C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgacctctccacggggtcca	0.677000														19			4		0.00307968	0.00313671	0.038147	1	0
FBXO3	26273	broad.mit.edu	37	11	33770403	33770403	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:33770403G>T	uc001muz.3	-	8	996	c.968C>A	c.(967-969)gCc>gAc	p.A323D	FBXO3_uc010rej.2_Missense_Mutation_p.A10D|FBXO3_uc001muy.3_Missense_Mutation_p.A210D|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.A323D|FBXO3_uc001mvb.1_Missense_Mutation_p.A318D|FBXO3_uc010rek.1_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	323	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAACTGACAGGCCTTCTCAGG	0.428000														57			6		0.00116845	0.00121254	0.021553	1	0
CCL23	6368	broad.mit.edu	37	17	34340315	34340315	+	Silent	SNP	G	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:34340315G>A	uc002hkt.1	-	3	356	c.285C>T	c.(283-285)gcC>gcT	p.A95A	CCL23_uc002hks.1_Silent_p.A112A	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	95					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CACTGGGGTTGGCACAGAAAC	0.527000														57			3		0	0	0.004672	0	0
PET112	5188	broad.mit.edu	37	4	152592364	152592364	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr4:152592364T>C	uc003iml.3	-	12	1677	c.1636A>G	c.(1636-1638)Atg>Gtg	p.M546V	PET112_uc003imk.3_Non-coding_Transcript	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	546						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCCTTTATCATGACTGGATCT	0.483000														81			68		0	0	0.048971	0	0
RPL6	6128	broad.mit.edu	37	12	112843158	112843158	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr12:112843158C>T	uc001ttu.3	-	6	966	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RPL6_uc001ttv.3_Missense_Mutation_p.R246H	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	246					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						ATCAATCTTGCGCTGCTCCGT	0.393000														32			14		0	0	0.024245	0	0
EDF1	8721	broad.mit.edu	37	9	139757816	139757816	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr9:139757816C>A	uc004cjt.1	-	2	243	c.215G>T	c.(214-216)aGg>aTg	p.R72M	EDF1_uc022bpv.1_Missense_Mutation_p.R72M|EDF1_uc004cju.1_Missense_Mutation_p.R72M	NM_003792	NP_003783	O60869	EDF1_HUMAN	Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA.	72	Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CAGGGTCACCCTGTCATGGTG	0.617000														25			16		3.41278e-10	3.75406e-10	0.033300	1	0
RIC8A	60626	broad.mit.edu	37	11	208890	208890	+	Silent	SNP	G	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:208890G>T	uc001lof.3	+	0	361	c.36G>T	c.(34-36)acG>acT	p.T12T	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.T12T|RIC8A_uc001loh.3_5'Flank	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	12						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGTGGAGACGGGTGAGGAGG	0.721000														9			3		0.00024832	0.000267796	0.009096	1	0
SLC16A6	9120	broad.mit.edu	37	17	66267173	66267173	+	Silent	SNP	A	G	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:66267173A>G	uc002jha.2	-	5	1441	c.1128T>C	c.(1126-1128)ttT>ttC	p.F376F	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Silent_p.F376F	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	376						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TAGCAAAAGTAAAGGCAAACA	0.443000														40			75		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179433843	179433843	+	Nonsense_Mutation	SNP	G	C	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:179433843G>C	uc021vsy.1	-	274	69537	c.69312C>G	c.(69310-69312)taC>taG	p.Y23104*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Y16799*|TTN_uc021vta.1_Nonsense_Mutation_p.Y16732*|TTN_uc021vtb.1_Nonsense_Mutation_p.Y16607*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24031	Ig-like 118.						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)			TGACTCTAAAGTAATAACTGC	0.418000														123			91		0	0	0.048971	0	0
ZGPAT	84619	broad.mit.edu	37	20	62340218	62340218	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr20:62340218G>A	uc002ygk.3	+	1	475	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	ARFRP1_uc002yga.3_5'Flank|ARFRP1_uc002ygf.3_5'Flank|ARFRP1_uc011abf.2_5'Flank|ARFRP1_uc002ygh.4_5'Flank|ARFRP1_uc002ygc.3_5'Flank|ARFRP1_uc011abg.2_5'Flank|ARFRP1_uc011abh.2_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.A96T|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Missense_Mutation_p.A96T|ZGPAT_uc002ygm.3_Missense_Mutation_p.A96T|ZGPAT_uc002ygj.2_Missense_Mutation_p.A96T|ZGPAT_uc002ygn.4_Non-coding_Transcript	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	96					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ACCAGCAGCGGCCCGTGGGTC	0.667000														35			60		0	0	0.048971	0	0
OVOS2	0	broad.mit.edu	37	12	31307356	31307356	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr12:31307356T>C	uc010sjy.1	-	6	724	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E						RecName: Full=Ovostatin homolog 2; Flags: Precursor;									p.K242E(2)				all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ATTTGGGTTTTCCCTTGCACA	0.383000														6			3		0	0	0.004672	0	0
ANO9	338440	broad.mit.edu	37	11	428825	428825	+	Splice_Site	SNP	T	C	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:428825T>C	uc001lpi.2	-	12	1001	c.916_splice	c.e12-1	p.E306_splice	ANO9_uc001lph.2_Splice_Site|ANO9_uc010qvv.1_Splice_Site_p.E162_splice	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	306						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGCCATTTCCTCCTGGGGAGA	0.602000														10			10		0	0	0.058154	0	0
FBXO7	25793	broad.mit.edu	37	22	32889131	32889131	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr22:32889131C>A	uc003amq.3	+	6	1290	c.1007C>A	c.(1006-1008)cCa>cAa	p.P336Q	FBXO7_uc003amt.3_Missense_Mutation_p.P257Q|FBXO7_uc003amu.3_Missense_Mutation_p.P222Q|FBXO7_uc003amv.3_Missense_Mutation_p.P35Q	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	336	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCGTCCTCCCATTGGAACTG	0.438000														136			97		2.9551e-36	3.4581e-36	0.048971	1	0
CHD2	1106	broad.mit.edu	37	15	93567925	93567925	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr15:93567925G>A	uc002bsp.3	+	38	6052	c.5477G>A	c.(5476-5478)cGg>cAg	p.R1826Q		NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1826					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGAATGTTCGGAAAACATAA	0.428000														35			3		0	0	0.009096	0	0
ALX3	257	broad.mit.edu	37	1	110604111	110604111	+	Silent	SNP	G	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:110604111G>T	uc001dzb.3	-	2	757	c.669C>A	c.(667-669)ccC>ccA	p.P223P		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCCGTGAAGGGGTTCCGCC	0.622000														49			27		3.1745e-13	3.56321e-13	0.037714	1	0
CLTC	1213	broad.mit.edu	37	17	57754485	57754485	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:57754485A>G	uc002ixr.1	+	16	3187	c.2744A>G	c.(2743-2745)aAg>aGg	p.K915R	CLTC_uc002ixp.3_Missense_Mutation_p.K911R|CLTC_uc002ixq.1_Missense_Mutation_p.K911R	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	911	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATTGTGAGAAGAGAGATCCA	0.423000			T	"""ALK, TFE3"""	"""ALCL, renal """									35			66		0	0	0.048971	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000														90			7		0	0	0.093190	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334804	142334804	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr7:142334804G>A	uc003vzp.2	+	1	281	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.V77I|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CGAGCAAGGCGTCGAGAAGGA	0.512000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			58		0	0	0.048971	0	0
FRRS1	391059	broad.mit.edu	37	1	100214268	100214268	+	Silent	SNP	A	G	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:100214268A>G	uc001dsh.1	-	2	659	c.57T>C	c.(55-57)taT>taC	p.Y19Y		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	19	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AATTAGCCACATAACTAATGT	0.378000														56			34		0	0	0.064281	0	0
UBE4B	10277	broad.mit.edu	37	1	10177626	10177626	+	Silent	SNP	C	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:10177626C>A	uc021ogc.1	+	8	2147	c.1459C>A	c.(1459-1461)Cga>Aga	p.R487R	UBE4B_uc001aqs.4_Silent_p.R436R|UBE4B_uc001aqr.4_Silent_p.R307R|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	436					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTGTTTCGACCGAGTTGGAAT	0.393000														41			3		0.000602214	0.000636958	0.014758	1	0
F12	2161	broad.mit.edu	37	5	176831341	176831341	+	Silent	SNP	G	A	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr5:176831341G>A	uc003mgo.4	-	8	923	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	292	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGTGCCAGGTCGCAGTAC	0.692000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			13		0	0	0.093190	0	0
PLG	5340	broad.mit.edu	37	6	161152118	161152118	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr6:161152118C>T	uc003qtm.4	+	10	1404	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	431	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATCCAGATGCCGATAAAGGC	0.507000														111			4		0	0	0.009096	0	0
BIN1	274	broad.mit.edu	37	2	127828371	127828371	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:127828371T>C	uc002tns.2	-	2	571	c.187A>G	c.(187-189)Aag>Gag	p.K63E	BIN1_uc010yzf.2_Missense_Mutation_p.K39E|BIN1_uc002tnt.2_Missense_Mutation_p.K63E|BIN1_uc010yzg.2_Missense_Mutation_p.K63E|BIN1_uc002tnu.2_Missense_Mutation_p.K63E|BIN1_uc002tnv.2_Missense_Mutation_p.K63E|BIN1_uc002tnw.2_Missense_Mutation_p.K63E|BIN1_uc002tnx.2_Missense_Mutation_p.K63E|BIN1_uc002tny.2_Missense_Mutation_p.K63E|BIN1_uc002tnz.2_Missense_Mutation_p.K63E|BIN1_uc002toa.2_Missense_Mutation_p.K63E|BIN1_uc002tob.2_Missense_Mutation_p.K63E|BIN1_uc002toc.2_Missense_Mutation_p.K63E	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	63	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGAGATCCTTCTGCAGCCGG	0.647000														22			19		0	0	0.069288	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974906	32974906	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr6:32974906C>T	uc003ocr.3	-	3	776	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	234					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						ACGGTGCCCACGAGGAAGCCC	0.627000														88			6		0	0	0.021553	0	0
FGGY	55277	broad.mit.edu	37	1	60133071	60133091	+	Splice_Site	DEL	TACTGGTAAGTCTGGGAAAGA	-	-	rs115318188	by1000genomes	TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:60133071_60133091delTACTGGTAAGTCTGGGAAAGA	uc009wac.3	+	14	1701	c.1489_splice	c.e14+1	p.G497_splice	FGGY_uc001czh.2_Splice_Site|FGGY_uc001czi.4_Splice_Site_p.G473_splice|FGGY_uc001czl.4_Splice_Site_p.G385_splice|FGGY_uc001czm.4_Splice_Site_p.G174_splice	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	473					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.G361C(1)|p.G473C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ATGCGGACATTACTGGTAAGTCTGGGAAAGAGGAGAGAAGG	0.466													---	101	---	---	19	---					
OR52H1	390067	broad.mit.edu	37	11	5566652	5566652	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:5566652delC	uc010qzh.2	-	0	102	c.102delG	c.(100-102)tggfs	p.W34fs	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTCCAATCCACACATGGA	0.473													---	45	---	---	27	---					
PPP6R3	55291	broad.mit.edu	37	11	68318634	68318637	+	Frame_Shift_Del	DEL	CATC	-	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:68318634_68318637delCATC	uc001onv.3	+	5	865_868	c.598_601delCATC	c.(598-603)catccafs	p.H200fs	PPP6R3_uc010rqb.1_Frame_Shift_Del_p.H109fs|PPP6R3_uc001onw.3_Frame_Shift_Del_p.H200fs|PPP6R3_uc001ony.4_Frame_Shift_Del_p.H200fs|PPP6R3_uc001onx.3_Frame_Shift_Del_p.H200fs|PPP6R3_uc009ysh.3_Frame_Shift_Del_p.H200fs|PPP6R3_uc001onu.3_Frame_Shift_Del_p.H200fs|PPP6R3_uc010rqc.2_Intron	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	200					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGAAATAGTTCATCCATCGCAAGA	0.348													---	30	---	---	25	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	281	---	---	7	---					
SBNO1	55206	broad.mit.edu	37	12	123801801	123801802	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr12:123801801_123801802insT	uc010tap.2	-	19	2901_2902	c.2901_2902insA	c.(2899-2904)ttacctfs	p.L967fs	SBNO1_uc010tao.2_Frame_Shift_Ins_p.L966fs|SBNO1_uc010taq.2_Intron|SBNO1_uc001ues.1_5'Flank	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	967							ATP binding|DNA binding|hydrolase activity	p.W968C(1)|p.P967L(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCGCTCCAAGGTAATTCTAAAG	0.396													---	81	---	---	36	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	66	---	---	7	---					
NCOA3	8202	broad.mit.edu	37	20	46252817	46252817	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr20:46252817delA	uc002xtk.3	+	3	507	c.246delA	c.(244-246)atafs	p.I82fs	NCOA3_uc002xtl.3_Frame_Shift_Del_p.I82fs|NCOA3_uc002xtn.3_Frame_Shift_Del_p.I82fs|NCOA3_uc010ght.2_Frame_Shift_Del_p.I82fs|NCOA3_uc002xtm.3_Frame_Shift_Del_p.I82fs|NCOA3_uc010zyc.2_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	82					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TACGTCAAATAAAAGAGCAAG	0.378													---	72	---	---	17	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	-	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													---	62	---	---	8	---					
