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
LSM4	25804	broad.mit.edu	37	19	18420597	18420597	+	Silent	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18420597G>A	uc002niq.3	-	3	390	c.219C>T	c.(217-219)gaC>gaT	p.D73D	LSM4_uc021uqn.1_Silent_p.D59D	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	Homo sapiens LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM4), transcript variant 1, mRNA.	73					RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing	U6 snRNP|cytosol	RNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)	6						CGATGATCTCGTCGGGGATGC	0.652000														63			7		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225477	64225477	+	Silent	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:64225477G>A	uc002jfn.4	-	0	80	c.21C>T	c.(19-21)atC>atT	p.I7I		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	7					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCGAGAACAAGATGAGCACTG	0.388000														48			8		0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52779460	52779460	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:52779460C>G	uc011bzo.2	+	9	864	c.857C>G	c.(856-858)tCa>tGa	p.S286*	DCUN1D4_uc003gze.3_Nonsense_Mutation_p.S242*|DCUN1D4_uc003gzf.3_Nonsense_Mutation_p.S207*|DCUN1D4_uc011bzn.2_Nonsense_Mutation_p.S182*|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	242	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			CATCAGCAATCAAAATACAAA	0.333000														31			5		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298663	125298663	+	Silent	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:125298663G>A	uc004euk.2	-	0	1418	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	415										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACCCAGACGTCATCTTGGT	0.617000														249			42		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056180	102056180	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:102056180A>G	uc001tii.3	+	18	2142	c.2002A>G	c.(2002-2004)Agg>Ggg	p.R668G	MYBPC1_uc001tig.3_Missense_Mutation_p.R693G|MYBPC1_uc010svr.2_Missense_Mutation_p.R668G|MYBPC1_uc010svs.2_Missense_Mutation_p.R668G|MYBPC1_uc001tij.3_Missense_Mutation_p.R668G|MYBPC1_uc010svt.2_Missense_Mutation_p.R656G|MYBPC1_uc010svu.2_Missense_Mutation_p.R649G|MYBPC1_uc001tik.3_Missense_Mutation_p.R642G|MYBPC1_uc001tih.3_Missense_Mutation_p.R693G|MYBPC1_uc010svq.2_Missense_Mutation_p.R655G	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	668	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGGTGGATGAGGCTGAATTT	0.403000														76			8		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135505739	135505739	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:135505739C>A	uc004cbq.1	-	15	2010	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	DDX31_uc010mzu.1_Silent_p.P611P	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	620	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCAATCCGGGCGGTTCTTCCA	0.478000														215			23		5.35356e-11	5.69239e-11	1	1	0
MTM1	4534	broad.mit.edu	37	X	149839952	149839952	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149839952G>A	uc004fef.4	+	14	1772	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.E529K|MTM1_uc011mxz.2_Missense_Mutation_p.E451K|MTM1_uc010nte.3_Missense_Mutation_p.E434K	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	566					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.E566K(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTACGCGACGAATACATAAA	0.522000														95			20		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														12			5		0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20964418	20964418	+	Silent	SNP	G	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:20964418G>C	uc001bdm.3	+	1	565	c.471G>C	c.(469-471)ctG>ctC	p.L157L		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	157	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGTATCTGATAGGGCAGT	0.547000														110			18		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	C	C	rs145412486	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000														286			15		0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74345810	74345810	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:74345810C>G	uc001xow.3	+	5	691	c.531C>G	c.(529-531)ttC>ttG	p.F177L	PTGR2_uc010tue.2_Missense_Mutation_p.F177L|PTGR2_uc001xox.3_Missense_Mutation_p.F177L|ZNF410_uc001xoy.2_Intron	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	177					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						TTGGCCATTTCTTAGGTTGTT	0.353000														155			19		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10257056	10257056	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:10257056C>T	uc002mng.3	-	26	2997	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	DNMT1_uc002mnf.3_5'Flank|DNMT1_uc010xlc.2_Silent_p.V955V|DNMT1_uc002mnh.3_Silent_p.V834V|DNMT1_uc010xld.2_Silent_p.V939V	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	939					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCAGGTACACACCATCAC	0.632000														60			9		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668330	20668330	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:20668330T>C	uc010kuh.3	+	3	365	c.128T>C	c.(127-129)cTg>cCg	p.L43P		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	696	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTGATGGACTGGACATCACA	0.463000														36			7		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304519	114304519	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:114304519G>C	uc004bff.2	+	5	1528	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATGAGAGTGGAGAAAAAACT	0.398000														113			20		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990677	21990677	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:21990677A>G	uc002nqj.3	-	3	2292	c.2162T>C	c.(2161-2163)cTt>cCt	p.L721P	ZNF43_uc002nql.3_Missense_Mutation_p.L715P|ZNF43_uc002nqm.3_Missense_Mutation_p.L715P|ZNF43_uc010ecv.3_Missense_Mutation_p.L715P|ZNF43_uc002nqk.3_Missense_Mutation_p.L651P	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGTTCAATAAGGTTTGAGGA	0.358000														97			12		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952517	140952517	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140952517G>A	uc004cog.3	+	27	4268	c.4123G>A	c.(4123-4125)Gtg>Atg	p.V1375M	CACNA1B_uc022bqn.1_Missense_Mutation_p.V1375M|CACNA1B_uc011mfd.2_Missense_Mutation_p.V976M|CACNA1B_uc004coi.3_Missense_Mutation_p.V589M	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1375					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GAAACACTCCGTGGATGCCAC	0.557000														85			12		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53552313	53552313	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:53552313C>T	uc001sby.3	-	15	1590	c.1464G>A	c.(1462-1464)cgG>cgA	p.R488R	CSAD_uc021qyc.1_Silent_p.R255R|CSAD_uc001sbw.3_Silent_p.R341R|CSAD_uc009zmt.3_Silent_p.R270R|CSAD_uc010snx.2_Silent_p.R515R|CSAD_uc001sbz.3_Silent_p.R488R|CSAD_uc009zmu.3_Silent_p.R341R|CSAD_uc021qyd.1_Intron	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	488					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCTGGCCTAGCCGCTCCAGCT	0.622000														73			12		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7061302	7061302	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061302C>T	uc001qsb.2	+	2	530	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PTPN6_uc001qsa.1_Silent_p.L98L|PTPN6_uc010sfr.1_Silent_p.L57L|PTPN6_uc009zfl.1_Silent_p.L96L|PTPN6_uc010sfs.1_Silent_p.L84L	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	96	SH2 1.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCATCCACCTCAAGTACCCGC	0.612000														140			19		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7061156	7061156	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061156C>G	uc001qsb.2	+	2	384	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PTPN6_uc001qsa.1_Missense_Mutation_p.Q50E|PTPN6_uc010sfr.1_Missense_Mutation_p.Q9E|PTPN6_uc009zfl.1_Missense_Mutation_p.Q48E|PTPN6_uc010sfs.1_Missense_Mutation_p.Q36E	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	48	SH2 1.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGTGGGGGATCAGGTGACCCA	0.597000														61			5		0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384748	53384748	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:53384748G>A	uc002qag.3	-	3	822	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.H157Y|ZNF320_uc002qai.3_Missense_Mutation_p.H211Y	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCCCTGTGAATTCTAGTA	0.378000														176			27		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11157013	11157013	+	Silent	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:11157013G>A	uc004cup.1	-	12	3768	c.2895C>T	c.(2893-2895)aaC>aaT	p.N965N	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.N762N|ARHGAP6_uc004cun.1_Silent_p.N785N	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	965					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCATCGGGGTTGTCGGTCG	0.741000														14			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047967	9047967	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9047967A>G	uc002mkp.3	-	4	33868	c.33664T>C	c.(33664-33666)Ttt>Ctt	p.F11222L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11224	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						AGATTTGAAAACGCACTGGTC	0.478000														44			4		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329161	23329161	+	RNA	SNP	C	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:23329161C>A	uc002nrb.1	+	3		c.1514C>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTCCTCAACCCTTACTACACA	0.408000														73			7		2.7689e-08	2.83643e-08	1	1	0
ORC1	4998	broad.mit.edu	37	1	52849599	52849599	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:52849599C>T	uc001ctt.3	-	11	1997	c.1766G>A	c.(1765-1767)gGc>gAc	p.G589D	ORC1_uc010oni.2_Missense_Mutation_p.G584D|ORC1_uc001ctu.3_Missense_Mutation_p.G589D	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	589	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTTTTTGGCCTGTTAGCTT	0.498000														72			6		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166904211	166904211	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:166904211C>G	uc002udo.4	-	9	1323	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	SCN1A_uc010fpk.3_Missense_Mutation_p.D366H|SCN1A_uc021vsb.1_Missense_Mutation_p.D366H	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	366			D -> E (in SMEI; dbSNP:rs121917958).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGAAGGTATCAAAGCTTGTG	0.418000														181			19		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180278	34180278	+	Silent	SNP	C	T	T	rs150945646		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:34180278C>T	uc002nus.4	+	2	616	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CHST8_uc002nut.4_Silent_p.L37L|CHST8_uc002nuu.3_Silent_p.L37L	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	37					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTACGGAGCTCGCCCCCCAGC	0.632000														151			20		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160219	104160219	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:104160219G>C	uc001dut.3	+	0	221	c.157G>C	c.(157-159)Gga>Cga	p.G53R	AMY2A_uc010ouq.1_Missense_Mutation_p.G53R	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	53					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	p.G53E(2)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GAAGGGATTTGGAGGGGTTCA	0.408000														243			32		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994279	139994279	+	Missense_Mutation	SNP	G	A	A	rs138090529	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:139994279G>A	uc004cld.2	+	5	897	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	MAN1B1_uc004clc.2_Missense_Mutation_p.G189S|MAN1B1_uc011meo.1_Missense_Mutation_p.G189S|MAN1B1_uc011mep.2_Missense_Mutation_p.G288S|MAN1B1_uc010ncc.2_Non-coding_Transcript	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	288					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GTTTGGCCTCGGTCTCACACT	0.582000														147			24		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70367846	70367846	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:70367846C>T	uc004dzd.2	+	1	581	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	NLGN3_uc004dzb.3_Missense_Mutation_p.R83C|NLGN3_uc011mps.2_Missense_Mutation_p.R83C|NLGN3_uc004dzc.3_Intron|NLGN3_uc011mpr.1_Missense_Mutation_p.R83C	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	83					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGCGAGAAACGTTTCCTGCC	0.642000														62			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026241	9026241	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9026241G>A	uc002mkp.3	-	13	36949	c.36745C>T	c.(36745-36747)Cgc>Tgc	p.R12249C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12251	SEA 2.				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						GAGCCAGTGCGACGCATGTCC	0.552000														172			36		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990731	47990731	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:47990731G>A	uc002xur.1	-	1	1532	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	KCNB1_uc002xus.1_Missense_Mutation_p.R456W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	456					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAATGCTCCGGGCAAAAGCA	0.453000														191			32		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510803	49510803	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:49510803C>T	uc002xvt.1	-	4	793	c.448G>A	c.(448-450)Gat>Aat	p.D150N	ADNP_uc002xvu.1_Missense_Mutation_p.D150N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTAAGGCCATCATTTTTGTTT	0.398000														247			41		0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28208522	28208522	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:28208522C>T	uc001bpc.4	+	3	715	c.687C>T	c.(685-687)gtC>gtT	p.V229V	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Silent_p.V229V	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	229	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGGAGGTCGACGTGGAGG	0.647000														96			12		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62535605	62535605	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:62535605G>A	uc003dll.2	-	10	2299	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	CADPS_uc003dlk.1_Nonsense_Mutation_p.Q151*|CADPS_uc003dlm.2_Nonsense_Mutation_p.Q647*|CADPS_uc003dln.2_Nonsense_Mutation_p.Q647*|CADPS_uc021wzv.1_Nonsense_Mutation_p.Q647*	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	647					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATCCAGCTGAGGTACATTT	0.478000														114			17		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173836	7173836	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7173836A>G	uc001qsj.3	+	10	1605	c.886A>G	c.(886-888)Aag>Gag	p.K296E	C1S_uc001qsk.3_Missense_Mutation_p.K296E|C1S_uc001qsl.3_Missense_Mutation_p.K296E|C1S_uc009zfr.3_Missense_Mutation_p.K129E|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	296	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCCCTGCCCTAAGGAAGACAC	0.418000														62			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000														64			6		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296738	28296738	+	Silent	SNP	G	A	A	rs11911960	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:28296738G>A	uc002ymg.3	-	7	3156	c.2427C>T	c.(2425-2427)agC>agT	p.S809S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	809	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCTCCAACCGCTATAGTTCA	0.443000														232			39		0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	T	T	rs147199465	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:23191911C>T	uc001yvg.3	-	8		c.1726G>A			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		TGATTTTCTTCGCACTGATCC	0.408000														66			5		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128929	83128929	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:83128929T>G	uc004eei.1	+	3	1234	c.1213T>G	c.(1213-1215)Ttc>Gtc	p.F405V	CYLC1_uc004eeh.1_Missense_Mutation_p.F404V	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	405					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAATTACATTCTCTACTGA	0.318000														39			6		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58019519	58019519	+	Silent	SNP	C	T	T	rs145592443		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:58019519C>T	uc001spe.3	+	13	1994	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_Intron	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	561						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CACTGGGCTGCGGCAAGTGAG	0.582000														75			5		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362468	72362468	+	Silent	SNP	G	A	A	rs145145054		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:72362468G>A	uc002sih.1	-	2	510	c.510C>T	c.(508-510)cgC>cgT	p.R170R	CYP26B1_uc010yra.1_Silent_p.R153R|CYP26B1_uc010yrb.1_Silent_p.R95R	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	170					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGCTCCAGGCGCGCAGTGTGT	0.622000														159			34		0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1574406	1574406	+	RNA	SNP	T	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:1574406T>C	uc011cmd.1	-	2		c.440A>G			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCATCAATCTGCACCTGAGG	0.478000														15			6		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929924	54929924	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:54929924C>T	uc001sgc.4	+	27	3047	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	NCKAP1L_uc010sox.2_Missense_Mutation_p.P532S|NCKAP1L_uc010soy.2_Missense_Mutation_p.P940S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	990					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACTTCATCTCCTGAGGAGGA	0.443000														102			14		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208441	138208441	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:138208441C>T	uc002tva.1	+	13	2893	c.2893C>T	c.(2893-2895)Ccc>Tcc	p.P965S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGTCATTCCCTGCCCATT	0.363000														52			5		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140218269	140218269	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140218269C>T	uc004cmp.2	-	18	2288	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	EXD3_uc010ncf.1_Missense_Mutation_p.D349N	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	698					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGGAGCAGTCGACCGAGAGG	0.672000														44			7		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	A	A	rs150952802		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:43766196G>A	uc002owd.4	-	2	624	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532000														438			230		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826539	23826539	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:23826539C>T	uc003sws.4	+	19	2550	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L	STK31_uc003swt.4_Missense_Mutation_p.S805L|STK31_uc011jze.2_Missense_Mutation_p.S828L|STK31_uc010kuq.3_Missense_Mutation_p.S805L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	828	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.N827H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTAAATTCAGAAGTAAGT	0.353000														165			19		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62954668	62954668	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:62954668A>C	uc001daq.3	-	41	5437	c.5403T>G	c.(5401-5403)gaT>gaG	p.D1801E	DOCK7_uc001dan.3_Missense_Mutation_p.D1662E|DOCK7_uc001dao.3_Missense_Mutation_p.D1662E|DOCK7_uc001dap.3_Missense_Mutation_p.D1779E|DOCK7_uc001dam.3_Missense_Mutation_p.D981E|DOCK7_uc010oov.1_Missense_Mutation_p.D540E	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1810	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTTTCTTTGCATCCCGATTAG	0.328000														93			10		0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16876907	16876907	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:16876907C>T	uc004cxt.3	-	3	731	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RBBP7_uc004cxs.2_Missense_Mutation_p.E169K|RBBP7_uc010nez.3_5'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	125					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CGGTTTACTTCTCCTTCGTGA	0.393000														184			22		0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47677787	47677787	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:47677787G>A	uc002ipg.3	-	9	1375	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	SPOP_uc010dbk.3_Nonsense_Mutation_p.Q360*|SPOP_uc002ipb.3_Nonsense_Mutation_p.Q360*|SPOP_uc002ipc.3_Nonsense_Mutation_p.Q360*|SPOP_uc002ipd.3_Nonsense_Mutation_p.Q360*|SPOP_uc002ipe.3_Nonsense_Mutation_p.Q360*|SPOP_uc002ipf.3_Nonsense_Mutation_p.Q360*	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	360					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAGGGCACTGTGCTGAAGCC	0.527000										Prostate(2;0.17)				262			43		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823922	50823922	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:50823922G>A	uc002pru.1	-	2	2393	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	KCNC3_uc002prt.1_Missense_Mutation_p.R336C	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	700					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGCTATAGCGGCCACGGCTT	0.652000														53			10		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183345	197183345	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:197183345C>T	uc002utm.1	-	8	2452	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	HECW2_uc002utl.1_Missense_Mutation_p.E401K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	757	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACTGCCTTCTTCTTGCGGT	0.657000														80			11		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745886	50745886	+	Silent	SNP	C	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:50745886C>A	uc002egm.1	+	3	2169	c.2064C>A	c.(2062-2064)ggC>ggA	p.G688G	NOD2_uc021tia.1_Silent_p.G520G|NOD2_uc010cbk.1_Silent_p.G661G|NOD2_uc002egl.1_Silent_p.G466G|NOD2_uc010cbl.1_Silent_p.G466G|NOD2_uc010cbm.1_Silent_p.G466G|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	688					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCACTGGGGCCTGCTGGCTG	0.662000														68			16		2.32078e-09	2.43682e-09	1	1	0
PLTP	5360	broad.mit.edu	37	20	44539794	44539794	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:44539794G>C	uc002xqm.2	-	1	792	c.257C>G	c.(256-258)tCt>tGt	p.S86C	PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Missense_Mutation_p.S66C|PLTP_uc002xqq.2_Missense_Mutation_p.S35C|PLTP_uc002xqn.2_Missense_Mutation_p.S66C|PLTP_uc002xqo.2_Missense_Mutation_p.S66C	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	66					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CACTTACTCAGAGATGTTGTA	0.637000														144			21		0	0	1	0	0
TMEM208	29100	broad.mit.edu	37	16	67262758	67262758	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:67262758C>G	uc002esi.2	+	4	464	c.358C>G	c.(358-360)Ctc>Gtc	p.L120V	LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	Homo sapiens transmembrane protein 208 (TMEM208), mRNA.	120						integral to membrane		p.S119S(1)		breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTGCTTCTCTCTCTATGTCTG	0.522000														157			14		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526872	97526872	+	Missense_Mutation	SNP	C	T	T	rs145704940	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:97526872C>T	uc002sxg.4	-	12	2383	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M	SEMA4C_uc002sxf.4_Missense_Mutation_p.V165M|SEMA4C_uc002sxe.3_Missense_Mutation_p.V206M|SEMA4C_uc002sxh.4_Missense_Mutation_p.V665M	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	665	Pro-rich.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCCAGCCACACCAGCCCCAGG	0.711000														56			5		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661892	6661892	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:6661892C>T	uc001mem.1	-	1	1354	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGTGGCCGCTCTAACTG	0.612000														140			21		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225420	38225420	+	Silent	SNP	T	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:38225420T>C	uc010abx.3	-	7	2296	c.2061A>G	c.(2059-2061)gaA>gaG	p.E687E	TRPC4_uc010abv.3_Silent_p.E267E|TRPC4_uc001uwt.3_Silent_p.E687E|TRPC4_uc001uws.3_Silent_p.E687E|TRPC4_uc010tey.2_Silent_p.E687E|TRPC4_uc010abw.3_Silent_p.E514E|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	687	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.P686Q(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCAAAACTTTCTGGCTTTC	0.368000														116			18		0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67242967	67242967	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:67242967C>T	uc001dcv.3	+	4	501	c.370C>T	c.(370-372)Cca>Tca	p.P124S	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	124										large_intestine(2)|lung(10)|skin(1)	13						CTTGATGATTCCACGGTATAA	0.383000														128			25		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				75			16		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:148012531C>T	uc001eqq.3	-	11	1460	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Silent_p.K387K|NBPF14_uc021owc.1_Silent_p.K143K|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Silent_p.K631K|NBPF14_uc021owh.1_Silent_p.K387K|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	476	NBPF 5.					cytoplasm		p.K476K(4)|p.K476N(2)|p.E475Q(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000														40			4		0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028827	141028827	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:141028827G>A	uc003llk.3	-	5	475	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	142								p.R142L(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCCCGGACAGACTGC	0.602000														253			36		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29913325	29913325	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:29913325C>A	uc003afr.3	-	16	1855	c.1520G>T	c.(1519-1521)tGc>tTc	p.C507F	THOC5_uc003afq.3_Missense_Mutation_p.C168F|THOC5_uc003afs.3_Missense_Mutation_p.C507F|THOC5_uc003aft.3_Missense_Mutation_p.C507F|THOC5_uc003afu.3_Missense_Mutation_p.C507F	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	507					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGTACTGGCAATCACTGGT	0.488000														65			9		3.09899e-07	3.13632e-07	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														93			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225669	21225669	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:21225669C>T	uc002red.3	-	28	12753	c.12625G>A	c.(12625-12627)Ggg>Agg	p.G4209R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4209					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTATATCCCAGGTTTCCCC	0.428000														117			19		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:29852959G>A	uc002dui.3	+	8	1386	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.E412K|MVP_uc010vea.2_Missense_Mutation_p.E6K	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	412					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617000														27			9		0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196736601	196736601	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:196736601C>T	uc003fxk.4	-	10	1527	c.1413G>A	c.(1411-1413)cgG>cgA	p.R471R		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	471	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGCGCTTGCCCCGAAGCTCAT	0.642000														92			12		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114795342	114795342	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:114795342G>A	uc001vui.3	-	4	525	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RASA3_uc010tkk.2_Missense_Mutation_p.R100W|RASA3_uc001vuj.3_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript|RASA3_uc010aha.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	132	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCGCTCAGCCGCAGCTCCAGG	0.642000														5			3		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260457	13260457	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:13260457C>T	uc010gce.1	+	2	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	185						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597000														94			10		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282184	74282184	+	Silent	SNP	C	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:74282184C>T	uc004ebz.3	-	13	1942	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	ABCB7_uc010nlt.3_Silent_p.S598S|ABCB7_uc004eca.3_Silent_p.S638S|ABCB7_uc011mqn.2_Silent_p.S612S|ABCB7_uc010nls.3_Silent_p.S599S	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	638	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCGAATCTAACGATGAAGTAG	0.353000														71			9		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27058070	27058070	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:27058070delC	uc001bmv.1	+	2	2151	c.1778delC	c.(1777-1779)tccfs	p.S593fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S593fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S593fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S210fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	593					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y592*(1)|p.S593fs*26(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTGCCTATTCCCAGCAGCGC	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	217	---	---	25	---					
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	CTG	CTG	rs35574083		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:55505552_55505553insCTG	uc001cyf.2	+	0	404_405	c.42_43insCTG	c.(40-45)insCTG	p.23_24insL	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													---	4	---	---	5	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:74687542_74687543insC	uc002slj.2	+	3	747_748	c.544_545insC	c.(544-546)gccfs	p.A182fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													---	224	---	---	7	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:97808574_97808575insA	uc010yva.2	+	8	1145	c.901_splice	c.e8+2	p.V301_splice	ANKRD36_uc021vlk.1_Intron|ANKRD36_uc010yuz.1_Splice_Site|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	301								p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													---	10	---	---	5	---					
ACVR2A	92	broad.mit.edu	37	2	148657137	148657138	+	Splice_Site	INS	-	T	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:148657137_148657138insT	uc002twg.3	+	4	642	c.373_splice	c.e4+1	p.P125_splice	ACVR2A_uc010zbn.2_Splice_Site_p.P17_splice|ACVR2A_uc002twh.3_Splice_Site_p.P125_splice	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	125					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTCACACAGCGTAAGTTCACAG	0.366													---	338	---	---	48	---					
SLC22A7	10864	broad.mit.edu	37	6	43269953	43269955	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:43269953_43269955delCTC	uc021yzt.1	+	7	1176_1178	c.1077_1079delCTC	c.(1075-1080)ttctcc>ttc	p.S360del	SLC22A7_uc010jyl.1_In_Frame_Del_p.S361del|SLC22A7_uc003ous.3_In_Frame_Del_p.S358del|SLC22A7_uc003out.3_In_Frame_Del_p.S358del	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	360						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GAGTGAACTTCTCCTATTACGGC	0.562													---	76	---	---	7	---					
LOC100132247	100132247	broad.mit.edu	37	16	22545452	22545454	+	In_Frame_Del	DEL	ATA	-	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:22545452_22545454delATA	uc010bxg.3	+	8	1330_1332	c.1148_1150delATA	c.(1147-1152)gataat>gat	p.N384del	LOC100132247_uc010vbv.2_In_Frame_Del_p.N384del|LOC100132247_uc021tew.1_In_Frame_Del_p.N384del|LOC100132247_uc010bxi.3_In_Frame_Del_p.N365del|LOC100132247_uc010bxk.3_In_Frame_Del_p.N201del	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCAGCGGATGATAATCTCAAGAC	0.576													---	6	---	---	3	---					
SLC4A1	6521	broad.mit.edu	37	17	42330701	42330701	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:42330701delC	uc002igf.4	-	16	2245	c.2096delG	c.(2095-2097)ggcfs	p.G699fs	SLC4A1_uc021tyc.1_Frame_Shift_Del_p.G333fs	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	699	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAAGCCGGAGCCCTTGACCAT	0.637													---	84	---	---	21	---					
SMAD4	4089	broad.mit.edu	37	18	48591977	48591978	+	Splice_Site	DEL	GT	-	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr18:48591977_48591978delGT	uc010xdp.2	+	9	1677	c.1139_splice	c.e9+1	p.R380_splice	SMAD4_uc002lfb.4_Splice_Site_p.R225_splice	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	380	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGAGAGCAAGGTATTGATTGTA	0.371													---	70	---	---	9	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:51961617_51961619delGCA	uc002pwt.3	-	0	90_92	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_uc010yda.2_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													---	152	---	---	7	---					
NCOA6	23054	broad.mit.edu	37	20	33345745	33345747	+	In_Frame_Del	DEL	TGT	-	-	rs41290900	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:33345745_33345747delTGT	uc002xav.3	-	7	3375_3377	c.804_806delACA	c.(802-807)caacag>cag	p.268_269QQ>Q	NCOA6_uc002xaw.3_In_Frame_Del_p.268_269QQ>Q|NCOA6_uc021wcd.1_In_Frame_Del_p.268_269QQ>Q|NCOA6_uc021wce.1_In_Frame_Del_p.268_269QQ>Q|NCOA6_uc021wcf.1_In_Frame_Del_p.268_269QQ>Q|NCOA6_uc010gew.1_In_Frame_Del_p.225_226QQ>Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	268	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(14)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ctgctgctgctgttgttgttgtt	0.532													---	86	---	---	8	---					
BC071797	0	broad.mit.edu	37	21	9766012	9766013	+	RNA	INS	-	A	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:9766012_9766013insA	uc011abu.2	+	7		c.509_510insA								Homo sapiens, clone IMAGE:4720764, mRNA.																		ACAACTATCAGAAAATGTATGT	0.277													---	9	---	---	5	---					
