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
HEATR5B	54497	broad.mit.edu	37	2	37268386	37268386	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:37268386G>C	uc002rpp.1	-	18	2842	c.2746C>G	c.(2746-2748)Ctt>Gtt	p.L916V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAACAACCAAGAGCCAATGAA	0.418000														56			32		0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15365420	15365420	+	Silent	SNP	A	G	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:15365420A>G	uc004cwt.2	-	5	1271	c.804T>C	c.(802-804)cgT>cgC	p.R268R	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	268	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CACACTCGCAACGATCTTCGT	0.473000														104			12		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578623	37578623	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:37578623C>T	uc003aqx.1	-	2	705	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	C1QTNF6_uc003aqw.1_Missense_Mutation_p.V129M|C1QTNF6_uc003aqy.1_Missense_Mutation_p.V148M|C1QTNF6_uc003aqz.1_Splice_Site	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	129	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGCGGCCCACTGAGAAGGCG	0.657000														84			4		0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110953281	110953281	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:110953281G>A	uc003puh.1	-	5	671	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	CDK19_uc003pui.1_Missense_Mutation_p.R140W|CDK19_uc011eax.1_Missense_Mutation_p.R76W	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	200	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGAGCCCGATACCAAAAT	0.358000														87			8		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688556	26688556	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:26688556C>T	uc002rhk.3	-	37	4910	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	OTOF_uc010yla.2_Missense_Mutation_p.A325T|OTOF_uc002rhh.3_Missense_Mutation_p.A828T|OTOF_uc002rhi.3_Missense_Mutation_p.A905T|OTOF_uc002rhj.3_Missense_Mutation_p.A828T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1595					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTGGGCGATGCCGCAG	0.582000														131			5		0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832652	79832652	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:79832652G>A	uc003hlk.3	+	15	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'UTR	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	984						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						CGCCAAAGGCGCACAAAGCAG	0.502000														63			3		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48684252	48684252	+	Silent	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:48684252G>A	uc003cuf.1	-	22	7449	c.7449C>T	c.(7447-7449)taC>taT	p.Y2483Y	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.Y396Y|CELSR3_uc003cul.3_Silent_p.Y2413Y|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2413	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGTGCGGTAAACGAGGA	0.602000														44			3		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10533673	10533673	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:10533673G>A	uc002gmq.2	-	36	5477	c.5389C>T	c.(5389-5391)Cgt>Tgt	p.R1797C		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1797					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin 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						TCATCTAGACGATGCTGCAGG	0.607000														157			17		0	0	1	0	0
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr20:44258532A>T	uc002xoz.3	+	0	148	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_uc002xoy.3_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	Homo sapiens WAP four-disulfide core domain 10A (WFDC10A), mRNA.	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587000											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			3		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130678772	130678772	+	Splice_Site	SNP	A	C	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:130678772A>C	uc004bss.3	-	2	202	c.-74_splice	c.e2-1		ST6GALNAC4_uc004bst.3_Intron	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.						glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGAGCCGGGCACCTGCCAAGA	0.617000														38			14		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62043903	62043903	+	Splice_Site	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62043903C>T	uc002jds.1	-	7	1114	c.1037_splice	c.e7-1	p.G346_splice		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582000														39			8		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45713342	45713342	+	Silent	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:45713342C>T	uc001zve.3	+	7	2305	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	732						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGTTAAGTTGCAAGGACTTGG	0.353000														22			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263554	140263554	+	Silent	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr5:140263554G>A	uc003lif.2	+	0	1701	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.T567T|PCDHAC2_uc003lid.3_Silent_p.T567T	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	581	Cadherin 5.				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)			CGCTGCTGACGCCCGGGGCTG	0.711000														146			6		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100175384	100175384	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:100175384T>C	uc002taf.3	-	20	3457	c.3313A>G	c.(3313-3315)Agg>Ggg	p.R1105G	AFF3_uc002tag.3_Missense_Mutation_p.R1080G	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1080					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGTGGTCCCTTTTGAGTCGA	0.483000											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			3		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														22			4		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854091	88854091	+	Silent	SNP	A	G	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:88854091A>G	uc010kbz.3	-	1	1033	c.903T>C	c.(901-903)gcT>gcC	p.A301A	CNR1_uc011dzr.2_Silent_p.A301A|CNR1_uc011dzs.2_Silent_p.A301A|CNR1_uc003pmq.4_Silent_p.A301A|CNR1_uc011dzt.2_Silent_p.A301A|CNR1_uc010kca.3_Silent_p.A268A|CNR1_uc021zco.1_Silent_p.A301A	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	301					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGGCTGTGAGCCTTCCAGA	0.537000														80			11		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812973	52812973	+	Silent	SNP	C	T	T	rs151186293	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:52812973C>T	uc003dfs.3	+	3	351	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'UTR|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	107	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGATGGAAACGCATTTATCG	0.547000														67			18		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189480	11189480	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:11189480G>A	uc003wtp.1	+	0	986	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	289	DUF6 2.					integral to membrane											CCTGCATTCCGAGGTGGTTGT	0.582000														178			37		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:33423522G>A	uc003oeq.3	+	1	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ZBTB9_uc021ywp.1_Silent_p.E215E	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552000														76			3		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255484	127255484	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr7:127255484G>A	uc010lld.1	-	0	297	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.R31W|PAX4_uc003vmh.3_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	39	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R31W(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCACAGGGCCGCATTCCACTG	0.582000														185			4		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9905237	9905237	+	Silent	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:9905237G>A	uc004csu.1	+	6	3741	c.3651G>A	c.(3649-3651)tcG>tcA	p.S1217S	SHROOM2_uc004csv.2_Silent_p.S52S|SHROOM2_uc011mic.1_Silent_p.S52S|SHROOM2_uc004csw.1_Silent_p.S52S	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1217					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.S1217L(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCGTGCACTCGGAGAGCCAGC	0.587000														17			5		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67688719	67688719	+	Silent	SNP	A	G	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:67688719A>G	uc002etn.3	+	31	3741	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	RLTPR_uc010vjr.2_Silent_p.P1171P	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1207										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACTGGCTCCATCCTTTGAAC	0.622000														154			54		0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:117959418G>A	uc004equ.3	+	3	684	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ZCCHC12_uc022cdh.1_Missense_Mutation_p.V71I	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557000														97			5		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89730624	89730624	+	Silent	SNP	A	G	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:89730624A>G	uc001dnc.3	-	7	1431	c.894T>C	c.(892-894)taT>taC	p.Y298Y	GBP5_uc001dnd.3_Silent_p.Y298Y|GBP5_uc001dne.1_Silent_p.Y298Y	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	298						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGGCATTGACATAGGTCAGCA	0.448000														18			31		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798840	42798840	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr19:42798840G>A	uc002otf.1	+	18	4452	c.4412G>A	c.(4411-4413)cGg>cAg	p.R1471Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612000			"""Mis, F, S"""		oligodendroglioma									67			17		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972673	25972673	+	Silent	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:25972673C>T	uc002rgs.2	-	10	1973	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ASXL2_uc002rgt.1_Silent_p.R324R	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACGTGGCCTCTTCTCCC	0.532000														28			9		0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131797874	131797874	+	Missense_Mutation	SNP	G	A	A	rs117266463	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:131797874G>A	uc002tsa.1	+	7	1484	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.S322N|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	322	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACATGTTCAGCGAGGAGCAG	0.682000														47			3		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100897160	100897160	+	Silent	SNP	C	T	T	rs147316581	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:100897160C>T	uc004aym.3	-	3	512	c.396G>A	c.(394-396)gcG>gcA	p.A132A	CORO2A_uc004ayl.3_Silent_p.A132A	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	132					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.A132A(2)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTACTCTGCGCGCGTGGCCCA	0.602000														42			25		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897045	29897045	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:29897045G>A	uc010vec.2	-	7	1479	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P342S|SEZ6L2_uc002dur.4_Missense_Mutation_p.P342S|SEZ6L2_uc002duq.4_Missense_Mutation_p.P412S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P368S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P298S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	412	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGATAGGGGGCTGCCCCCT	0.602000														74			16		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									44			23		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	T	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:38120282C>T	uc003atr.3	+	6	1990	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D	TRIOBP_uc003atu.3_Silent_p.D401D|TRIOBP_uc003atq.1_Silent_p.D573D|TRIOBP_uc003ats.1_Silent_p.D401D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587000														402			8		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46497240	46497240	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:46497240C>A	uc001cov.3	+	23	3453	c.3170C>A	c.(3169-3171)tCa>tAa	p.S1057*	MAST2_uc001cow.3_Nonsense_Mutation_p.S1057*|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1057					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAGCCCTCTCACTCCTCATT	0.607000														42			3		0.00909568	0.00909568	1	1	0
FAM189A2	9413	broad.mit.edu	37	9	71992346	71992346	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:71992346G>A	uc010mon.1	+	4	417	c.313G>A	c.(313-315)Gct>Act	p.A105T	FAM189A2_uc004ahg.2_Missense_Mutation_p.A105T|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	105						integral to membrane		p.A105T(2)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTGGTGGCCGCTGCCCTCCG	0.557000														142			4		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276231	186276231	+	Silent	SNP	A	C	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:186276231A>C	uc001gru.4	+	6	1431	c.1380A>C	c.(1378-1380)acA>acC	p.T460T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T419T|PRG4_uc009wyl.3_Silent_p.T367T|PRG4_uc009wym.3_Silent_p.T326T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGGAGCCTACACCCACCACTC	0.652000														55			5		0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70837109	70837109	+	Silent	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:70837109G>A	uc022bys.1	-	0	354	c.354C>T	c.(352-354)aaC>aaT	p.N118N	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Silent_p.N71N|CXCR3_uc011mpx.2_Silent_p.N118N	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	71					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACCGCGCCGTTGCCCAGCA	0.667000														14			3		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134455699	134455699	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:134455699G>A	uc022bos.1	-	22	3247	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	RAPGEF1_uc022bot.1_Missense_Mutation_p.R1012W	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	1012	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGCTGCCACCGCTTGGAGAAG	0.632000														44			25		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86049720	86049720	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:86049720G>A	uc003ycw.3	+	14	2559	c.2351G>A	c.(2350-2352)cGt>cAt	p.R784H	LRRCC1_uc022awx.1_Missense_Mutation_p.R691H|LRRCC1_uc010maa.2_Missense_Mutation_p.R485H|LRRCC1_uc003ycy.3_Missense_Mutation_p.R764H	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	784					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333000														28			18		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427079	65427079	+	Silent	SNP	T	A	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:65427079T>A	uc011moz.2	+	13	2633	c.2496T>A	c.(2494-2496)ggT>ggA	p.G832G	HEPH_uc004dwn.3_Silent_p.G781G|HEPH_uc004dwo.3_Silent_p.G511G|HEPH_uc010nkr.3_Silent_p.G589G|HEPH_uc011mpa.2_Silent_p.G781G|HEPH_uc010nks.3_Silent_p.G70G	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	778	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTCCTGGGTTCCAGATACA	0.463000														37			8		0	0	1	0	0
HIST2H2BC	337873	broad.mit.edu	37	1	149821913	149821916	+	Frame_Shift_Del	DEL	GGAG	-	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:149821913_149821916delGGAG	uc021oxz.1	-	0	425_428	c.425_428delCTCC	c.(424-429)cctccgfs	p.P142fs	HIST2H2AA3_uc001esx.3_5'Flank|HIST2H3C_uc001esy.3_5'Flank					Homo sapiens histone cluster 2, H2bc (HIST2H2BC), non-coding RNA.																		GGCGACCCGCggagggagggaggg	0.593													---	6	---	---	4	---					
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:186370136_186370137insC	uc010hyq.3	+	7	1126_1127	c.865_866insC	c.(865-867)accfs	p.T289fs	FETUB_uc011brz.2_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqn.3_Frame_Shift_Ins_p.T289fs|FETUB_uc010hyr.3_Frame_Shift_Ins_p.T252fs|FETUB_uc010hys.3_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqp.4_Frame_Shift_Ins_p.T224fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495													---	328	---	---	7	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:22020159_22020161delGTG	uc003xaw.4	+	4	965_967	c.262_264delGTG	c.(262-264)gtgdel	p.V93del	SFTPC_uc003xax.4_In_Frame_Del_p.V44del|SFTPC_uc003xay.4_In_Frame_Del_p.V44del|SFTPC_uc003xaz.3_In_Frame_Del_p.V44del|SFTPC_uc011kza.1_In_Frame_Del_p.V44del|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													---	249	---	---	7	---					
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:6662142delG	uc001mem.1	-	1	1104	c.703delC	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													---	275	---	---	8	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Splice_Site	INS	-	C	C	rs148075904	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:26684390_26684391insC	uc002haz.3	-	2	209	c.79_splice	c.e2-1	p.P27_splice	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	27						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													---	11	---	---	5	---					
