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
FN1	2335	broad.mit.edu	37	2	216288871	216288871	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:216288871G>A	uc002vfa.3	-	7	1480	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	FN1_uc002vfc.3_Missense_Mutation_p.T405I|FN1_uc002vfe.3_Missense_Mutation_p.T405I|FN1_uc002vff.3_Missense_Mutation_p.T405I|FN1_uc002vfg.3_Missense_Mutation_p.T405I|FN1_uc002vfh.3_Missense_Mutation_p.T405I|FN1_uc002vfi.3_Missense_Mutation_p.T405I|FN1_uc002vfj.3_Missense_Mutation_p.T405I|FN1_uc002vfb.3_Missense_Mutation_p.T405I|FN1_uc002vfl.3_Missense_Mutation_p.T405I	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	405	Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACTCACCAGTGTGGTCTGT	0.488000														211			55		0	0	0.003610	0	0
TMEM30A	55754	broad.mit.edu	37	6	75965841	75965841	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:75965841T>C	uc003phw.2	-	6	1341	c.1063A>G	c.(1063-1065)Aat>Gat	p.N355D	TMEM30A_uc003phx.2_Missense_Mutation_p.N319D	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	355						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTGTATTACTACTGTTT	0.358000														60			8		0	0	0.003080	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	G	G	rs1057378	by1000genomes	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000														44			3		0	0	0.004482	0	0
RC3H1	149041	broad.mit.edu	37	1	173910415	173910415	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:173910415G>A	uc010pmt.2	-	17	3326	c.3239C>T	c.(3238-3240)aCa>aTa	p.T1080I	RC3H1_uc001gju.4_Missense_Mutation_p.T1080I|RC3H1_uc010pms.2_Missense_Mutation_p.T1071I|RC3H1_uc001gjv.3_Missense_Mutation_p.T1071I	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	1080					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAATGTCAATGTAAGGTCCTC	0.368000														185			19		0	0	0.007413	0	0
MYH14	79784	broad.mit.edu	37	19	50812427	50812427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:50812427C>T	uc010enu.1	+	41	6000	c.5953C>T	c.(5953-5955)Cgg>Tgg	p.R1985W	MYH14_uc002prq.1_Missense_Mutation_p.R1952W|MYH14_uc002prr.1_Missense_Mutation_p.R1944W|MYH14_uc010ycb.2_Missense_Mutation_p.R295W|MYH14_uc002prs.1_Missense_Mutation_p.R295W	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1944					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACTGAGGAACCGGCTTCGGTA	0.642000														114			21		0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216496975	216496975	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:216496975C>T	uc001hku.1	-	7	1778	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	USH2A_uc001hkv.3_Missense_Mutation_p.R464H	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	464	Laminin N-terminal.		R -> C (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATCCAGGACGATAATTTGG	0.373000										HNSCC(13;0.011)				225			58		0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23869987	23869987	+	Silent	SNP	G	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23869987G>C	uc001wjv.3	-	12	1412	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	MYH6_uc010akp.2_Silent_p.T447T	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	447	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A446T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTCTCCAGGGTGGCGTTGA	0.582000														134			22		0	0	0.010504	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8666006	8666006	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:8666006G>T	uc002mkj.1	-	5	890	c.616C>A	c.(616-618)Cca>Aca	p.P206T	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	206					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCCACCATGGCCGCCCTTTC	0.627000														77			10		3.86212e-05	4.04037e-05	0.008291	1	0
BVES	11149	broad.mit.edu	37	6	105563588	105563588	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:105563588G>A	uc003pqw.3	-	6	1088	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BVES_uc003pqx.3_Missense_Mutation_p.R311W|BVES_uc003pqy.3_Missense_Mutation_p.R311W	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	311					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.R311W(2)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAGGTACCCCGAAGAAACTGG	0.478000														156			28		0	0	0.005443	0	0
IGJ	3512	broad.mit.edu	37	4	71522118	71522118	+	Silent	SNP	G	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:71522118G>T	uc010ihz.3	-	4	597	c.456C>A	c.(454-456)gtC>gtA	p.V152V	IGJ_uc003hfn.4_Silent_p.V136V	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	136					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACGAGTGGGACCACAGCTG	0.453000														91			36		3.76114e-14	4.09212e-14	0.004289	1	0
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:131959074C>T	uc001lkn.2	+	3	337	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_uc001lkm.2_Silent_p.I97I|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	97	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCAGAAAATCGACCGATTAG	0.378000														68			29		0	0	0.006320	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														165			6		0	0	0.003080	0	0
SPACA7	122258	broad.mit.edu	37	13	113053418	113053418	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:113053418G>A	uc001vsd.2	+	3	329	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	94						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TGGTGGTTCTGAGAATTACCA	0.353000														55			9		0	0	0.004482	0	0
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:42360832G>A	uc001wvm.3	+	3	2963	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	589						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463000										HNSCC(30;0.082)				90			30		0	0	0.006320	0	0
DPP6	1804	broad.mit.edu	37	7	154596629	154596629	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:154596629A>G	uc003wlk.3	+	14	1631	c.1502A>G	c.(1501-1503)tAc>tGc	p.Y501C	DPP6_uc003wli.3_Missense_Mutation_p.Y437C|DPP6_uc003wlm.3_Missense_Mutation_p.Y439C|DPP6_uc011kvq.2_Missense_Mutation_p.Y394C	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	501					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTTTGCAGCTACTTCCTGAGC	0.577000														17			5		0	0	0.001168	0	0
PAGE1	8712	broad.mit.edu	37	X	49459355	49459355	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:49459355A>C	uc004dom.3	-	1	152	c.19T>G	c.(19-21)Tta>Gta	p.L7V		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	7					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CGATAGATTAATCTTCTTAGA	0.373000														22			13		0	0	0.001368	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414237	19414237	+	RNA	SNP	A	T	T	rs3963827		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:19414237A>T	uc010tcj.1	-	0		c.31873T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTCTTCTCTATTTTTTTTGT	0.294000														46			4		0	0	0.009096	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414102	19414102	+	RNA	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:19414102C>T	uc010tcj.1	-	0		c.32008G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAATTTTTACCAAAGATTGAT	0.274000														36			3		0	0	0.004672	0	0
IRS4	8471	broad.mit.edu	37	X	107977753	107977753	+	Nonsense_Mutation	SNP	T	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:107977753T>A	uc004eoc.2	-	0	1855	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	608						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCAGAGATTTTCCACGTTCA	0.542000														174			158		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61833923	61833923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:61833923C>T	uc001jky.3	-	36	7054	c.6716G>A	c.(6715-6717)cGt>cAt	p.R2239H	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2239					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R2239C(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTAACACGCATGCCTTT	0.413000														255			10		0	0	0.006214	0	0
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:161115979C>T	uc003lyu.2	+	3	588	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	84					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTTTTTTCCGCCAGACCTG	0.408000										TCGA Ovarian(5;0.080)				156			43		0	0	0.002522	0	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														26			4		0	0	0.009096	0	0
QRICH2	84074	broad.mit.edu	37	17	74283929	74283929	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74283929C>G	uc002jrd.1	-	5	3530	c.3350G>C	c.(3349-3351)gGg>gCg	p.G1117A	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1117							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGTTCCTTCCCTGCTTCTTG	0.562000														170			6		0	0	0.001168	0	0
POM121L12	285877	broad.mit.edu	37	7	53104077	53104077	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:53104077C>T	uc003tpz.3	+	0	729	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCTGAAGCCGAGCCTCGGC	0.652000														94			37		0	0	0.004289	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766780	171766780	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:171766780C>T	uc003mbr.3	-	12	1500	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	443					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGGGTCACCTCGTGGGGCA	0.647000														82			4		0	0	0.009096	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870106	51870106	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:51870106G>A	uc002xwo.3	+	1	996	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	TSHZ2_uc021wex.1_Missense_Mutation_p.G34S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	37					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S36S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ggaggaCAGCGGTTCAGTAGC	0.532000														79			16		0	0	0.003163	0	0
CTSF	8722	broad.mit.edu	37	11	66333389	66333389	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66333389C>A	uc001oip.3	-	6	967	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	293					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGCAGGAGCCACACATGCCC	0.622000														69			25		1.10923e-09	1.18784e-09	0.002780	1	0
ALAS2	212	broad.mit.edu	37	X	55047614	55047614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:55047614C>T	uc004dua.4	-	4	647	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ALAS2_uc004dub.4_Missense_Mutation_p.R157H|ALAS2_uc004dud.4_Missense_Mutation_p.R133H	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATCAGCCCAGCGGTTCACAGT	0.483000														58			49		0	0	0.003610	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854329	42854329	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:42854329T>C	uc010skv.2	-	7	2065	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	PRICKLE1_uc001rnl.3_Missense_Mutation_p.E593G|PRICKLE1_uc010skw.2_Missense_Mutation_p.E593G|PRICKLE1_uc001rnm.3_Missense_Mutation_p.E593G|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	593					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTTAAGGACTCTGCACTCCT	0.438000														263			45		0	0	0.003610	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:108518661T>C	uc001vql.3	-	0	800	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000														51			4		0	0	0.009096	0	0
ING1	3621	broad.mit.edu	37	13	111368263	111368263	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:111368263A>G	uc001vri.3	+	0	905	c.473A>G	c.(472-474)gAc>gGc	p.D158G	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	158					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCAGTTCGGACCGCCTCCCG	0.711000														46			14		0	0	0.004990	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020596	73020596	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73020596G>C	uc001otu.3	+	0	934	c.913G>C	c.(913-915)Gac>Cac	p.D305H	ARHGEF17_uc021qnc.1_Missense_Mutation_p.D305H	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	305					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATTGGATCAGGACTGCAGGCC	0.632000														104			47		0	0	0.003214	0	0
CPSF2	53981	broad.mit.edu	37	14	92628035	92628035	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:92628035C>T	uc001yah.2	+	15	2564	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	766					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTGCCTTTGTCAAGATTTTTA	0.318000														95			8		0	0	0.003080	0	0
SEC24C	9632	broad.mit.edu	37	10	75530836	75530836	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:75530836C>T	uc001juw.3	+	23	3448	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	SEC24C_uc001jux.3_Missense_Mutation_p.R1090W|SEC24C_uc010qko.2_Missense_Mutation_p.R971W|SEC24C_uc010qkp.2_Missense_Mutation_p.R338W|SEC24C_uc010qkq.2_Missense_Mutation_p.R338W|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	1090					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAAGGAGATTCGGCAGCTACT	0.488000														123			63		0	0	0.003610	0	0
POLA1	5422	broad.mit.edu	37	X	24839663	24839663	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:24839663T>C	uc004dbl.3	+	30	3521	c.3506T>C	c.(3505-3507)gTg>gCg	p.V1169A		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1169					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGCAGAAAGGTGAAAGCTGGA	0.393000														36			31		0	0	0.009535	0	0
DHX40	79665	broad.mit.edu	37	17	57650476	57650476	+	Splice_Site	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:57650476G>A	uc002ixn.2	+	4	574	c.427_splice	c.e4-1	p.E143_splice	DHX40_uc010woe.2_Splice_Site_p.E66_splice|DHX40_uc002ixo.1_Splice_Site_p.E44_splice	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	143	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGAACATTAGGAGACAGCAA	0.368000														196			73		0	0	0.003610	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:5892008G>A	uc002kmx.1	-	0	96	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	19						integral to membrane		p.R19S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	0.607000														45			7		0	0	0.001984	0	0
ESCO2	157570	broad.mit.edu	37	8	27634027	27634027	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:27634027C>T	uc003xgg.3	+	2	285	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Silent_p.L68L	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	68					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATAAATAGACTGCCATCAGC	0.368000									SC Phocomelia syndrome					59			28		0	0	0.006320	0	0
GMEB1	10691	broad.mit.edu	37	1	29040799	29040799	+	Silent	SNP	A	G	G	rs16837667	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:29040799A>G	uc001bra.3	+	9	1378	c.1236A>G	c.(1234-1236)ccA>ccG	p.P412P	GMEB1_uc001bqz.3_Silent_p.P402P|GMEB1_uc001brb.3_Silent_p.P402P	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.N411S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCACCCCAGTGGGTCAGT	0.607000														105			4		0	0	0.009096	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:79051886G>A	uc002bej.4	-	23	5149	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1646	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1646C(7)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701000														16			3		0	0	0.004672	0	0
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:41729807C>T	uc003thq.3	-	1	957	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	INHBA_uc003thr.3_Missense_Mutation_p.R241Q	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	241					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R241W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572000										TSP Lung(11;0.080)				67			18		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000														160			7		0	0	0.003080	0	0
SAC3D1	29901	broad.mit.edu	37	11	64812163	64812163	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:64812163A>C	uc001ocm.3	+	1	1430	c.1041A>C	c.(1039-1041)gaA>gaC	p.E347D		NM_013299	NP_037431			Homo sapiens SAC3 domain containing 1 (SAC3D1), mRNA.											endometrium(2)|lung(1)	3						CAGAGGAGGAAGATGAGGGCA	0.602000														80			15		0	0	0.002450	0	0
MATN4	8785	broad.mit.edu	37	20	43933094	43933094	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:43933094C>T	uc002xnn.2	-	2	604	c.417G>A	c.(415-417)ccG>ccA	p.P139P	MATN4_uc002xnp.2_Silent_p.P139P|MATN4_uc002xno.2_Silent_p.P139P|MATN4_uc010zwr.1_Silent_p.P87P|MATN4_uc002xnr.1_Silent_p.P139P|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	139	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CAGCGACACGCGGCACGCGCT	0.701000														37			9		0	0	0.004482	0	0
LOC646278	646278	broad.mit.edu	37	15	29083845	29083845	+	RNA	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:29083845G>A	uc021sgt.1	+	11		c.1437G>A			LOC646278_uc001zcj.3_Non-coding_Transcript					Homo sapiens programmed cell death 6 interacting protein pseudogene (LOC646278), non-coding RNA.																		TGGTAGTGTCGAACCAAGTGG	0.393000														44			9		0	0	0.004482	0	0
CCDC171	203238	broad.mit.edu	37	9	15678782	15678782	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:15678782A>T	uc011lmu.2	+	8	1214	c.1103A>T	c.(1102-1104)aAt>aTt	p.N368I	CCDC171_uc010mih.1_Missense_Mutation_p.N368I|CCDC171_uc003zmd.3_Missense_Mutation_p.N368I|CCDC171_uc003zme.3_Missense_Mutation_p.N275I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	368	Glu-rich.																TTCTCCAAAAATAAGAAACTA	0.308000														84			20		0	0	0.007413	0	0
USP42	84132	broad.mit.edu	37	7	6189801	6189801	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:6189801C>T	uc011jwo.1	+	12	2097	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N	USP42_uc010kth.1_Silent_p.N591N|USP42_uc011jwp.2_Silent_p.N658N|USP42_uc011jwq.2_Silent_p.N465N|USP42_uc011jwr.1_Silent_p.N503N	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	658					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGACCCTAAACGGTGCTAATA	0.567000														54			12		0	0	0.000978	0	0
WRAP53	55135	broad.mit.edu	37	17	7606137	7606137	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7606137A>G	uc010vuh.2	+	8	1396	c.1241A>G	c.(1240-1242)aAt>aGt	p.N414S	WRAP53_uc010vui.2_Missense_Mutation_p.N414S|WRAP53_uc002gip.3_Missense_Mutation_p.N414S|WRAP53_uc002gir.3_Missense_Mutation_p.N414S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.N381S|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	414					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GTGACCACCAATCAGCGCATC	0.592000														77			5		0	0	0.001168	0	0
TRIM42	287015	broad.mit.edu	37	3	140397360	140397360	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:140397360C>T	uc003eto.2	+	0	495	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	97						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTGCTGCCGCAATACCAT	0.542000														88			31		0	0	0.008361	0	0
BPIFB1	92747	broad.mit.edu	37	20	31876575	31876575	+	Silent	SNP	C	T	T	rs150828161		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:31876575C>T	uc002wyw.1	+	2	305	c.144C>T	c.(142-144)aaC>aaT	p.N48N	BPIFB1_uc010gej.1_Silent_p.N48N	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	48						extracellular space	lipid binding										AGGACCACAACGCCACCAGCA	0.642000														70			28		0	0	0.006320	0	0
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7577517A>G	uc002gim.2	-	6	958	c.764T>C	c.(763-765)aTc>aCc	p.I255T	TP53_uc002gig.1_Missense_Mutation_p.I255T|TP53_uc002gih.3_Missense_Mutation_p.I255T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123T|TP53_uc010cnf.1_Missense_Mutation_p.I123T|TP53_uc002gii.1_Missense_Mutation_p.I123T|TP53_uc010cni.1_Missense_Mutation_p.I255T|TP53_uc010cnh.1_Missense_Mutation_p.I255T|TP53_uc002gij.2_Missense_Mutation_p.I255T|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162T|TP53_uc002gio.2_Missense_Mutation_p.I123T|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; 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.I255S(18)|p.I255F(18)|p.I255del(14)|p.I255T(14)|p.I255N(14)|p.0?(8)|p.I254F(7)|p.I254S(6)|p.I254V(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(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)		TTCCAGTGTGATGATGGTGAG	0.582000		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)				59			18		0	0	0.007413	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882002	1882002	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:1882002A>G	uc003wpr.3	+	25	3294	c.3116A>G	c.(3115-3117)aAg>aGg	p.K1039R	ARHGEF10_uc003wps.3_Missense_Mutation_p.K1001R|ARHGEF10_uc010lre.3_Missense_Mutation_p.K690R	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	1064					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAAGTGATCAAGTTAGGCGTC	0.433000														177			65		0	0	0.003610	0	0
ZNF777	27153	broad.mit.edu	37	7	149129476	149129476	+	Silent	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:149129476G>A	uc003wfv.3	-	5	2050	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	629	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCCACCGCCGCCGCTACCAG	0.672000														307			9		0	0	0.004482	0	0
CCKAR	886	broad.mit.edu	37	4	26491074	26491074	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:26491074A>C	uc003gse.1	-	1	298	c.145T>G	c.(145-147)Tcc>Gcc	p.S49A		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	49					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATATCAAGGAGTACAAGAGA	0.547000														144			20		0	0	0.010504	0	0
FASN	2194	broad.mit.edu	37	17	80039509	80039509	+	Missense_Mutation	SNP	C	T	T	rs145866788	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:80039509C>T	uc002kdu.3	-	36	6491	c.6374G>A	c.(6373-6375)cGg>cAg	p.R2125Q	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2125	Acyl carrier.				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCAGGTCCCGCTGGCTGTC	0.632000														112			4		0	0	0.009096	0	0
LTB4R	1241	broad.mit.edu	37	14	24785420	24785420	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:24785420C>T	uc001wou.3	+	1	895	c.563C>T	c.(562-564)aCg>aTg	p.T188M	LTB4R_uc001wos.3_Missense_Mutation_p.T188M|LTB4R_uc010alp.3_Missense_Mutation_p.T188M|LTB4R_uc021rrq.1_Missense_Mutation_p.T188M	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	188					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GAGGCTGTCACGGGCTTCCTG	0.667000														134			42		0	0	0.006230	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119121128	119121128	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:119121128G>C	uc003ecj.4	+	9	2061	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	510					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACGCCGTGCAGAACACCCCCG	0.592000														155			5		0	0	0.000602	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638816	65638816	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:65638816G>T	uc001ofy.4	-	3	438	c.179C>A	c.(178-180)aCc>aAc	p.T60N	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	60	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCAGGGATGGTCAGACACTC	0.642000														203			23		3.7963e-18	4.19754e-18	0.003330	1	0
MRGPRF	116535	broad.mit.edu	37	11	68773653	68773653	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:68773653G>A	uc001ooo.4	-	2	492	c.125C>T	c.(124-126)cCg>cTg	p.P42L	MRGPRF_uc001oop.4_Missense_Mutation_p.P42L	NM_001098515	NP_659452	Q96AM1	MRGRF_HUMAN	Homo sapiens MAS-related GPR, member F (MRGPRF), transcript variant 1, mRNA.	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCGGAGGCGGCAGCATCGC	0.632000														73			26		0	0	0.003330	0	0
DRD2	1813	broad.mit.edu	37	11	113281640	113281640	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:113281640C>T	uc001pnz.3	-	6	1462	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	DRD2_uc010rwv.2_Missense_Mutation_p.V380M|DRD2_uc001poa.4_Missense_Mutation_p.V381M|DRD2_uc001pob.4_Missense_Mutation_p.V352M	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	381					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATGATGAACACGCCTGGGGGA	0.617000														107			14		0	0	0.001855	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									101			6		0	0	0.001168	0	0
MST1P9	11223	broad.mit.edu	37	1	17085872	17085872	+	Missense_Mutation	SNP	A	G	G	rs1806514	by1000genomes	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:17085872A>G	uc010ock.2	-	7	949	c.949T>C	c.(949-951)Tgg>Cgg	p.W317R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.W307R(1)|p.W317R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGAGGTTCCAGCAGAAGTTC	0.662000														47			4		0	0	0.001855	0	0
GABRB1	2560	broad.mit.edu	37	4	47322169	47322169	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:47322169A>T	uc003gxh.3	+	4	861	c.487A>T	c.(487-489)Atg>Ttg	p.M163L	GABRB1_uc011bze.2_Missense_Mutation_p.M93L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	163					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCATGTATGATGGATCTTCG	0.423000														103			9		0	0	0.006214	0	0
GTF3C1	2975	broad.mit.edu	37	16	27544625	27544625	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:27544625A>C	uc002dov.2	-	4	876	c.836T>G	c.(835-837)cTg>cGg	p.L279R	GTF3C1_uc002dou.3_Missense_Mutation_p.L279R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	279						transcription factor TFIIIC complex	DNA binding|protein binding	p.L279L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCTTCCCTCAGCTTTCCCAG	0.552000														95			27		0	0	0.004656	0	0
IL20RA	53832	broad.mit.edu	37	6	137323435	137323435	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:137323435C>T	uc003qhj.3	-	6	1355	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	IL20RA_uc011edl.2_Missense_Mutation_p.V259M|IL20RA_uc003qhk.3_Missense_Mutation_p.V197M|IL20RA_uc003qhi.3_Missense_Mutation_p.V40M	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	308						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AAGTTAATCACGATTTTTTCA	0.318000														84			17		0	0	0.008871	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	A	A	rs112098339		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000														65			8		1.06961e-07	1.13646e-07	0.003080	1	0
PKD1P1	339044	broad.mit.edu	37	16	16418925	16418925	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:16418925C>T	uc010vac.2	+	1	321	c.45C>T	c.(43-45)taC>taT	p.Y15Y	PKD1P1_uc002der.3_Non-coding_Transcript					Homo sapiens polycystic kidney disease 1 (autosomal dominant) pseudogene 1 (PKD1P1), non-coding RNA.																		CGCTGGTGTACGCCCTGCTGC	0.682000														51			4		0	0	0.000602	0	0
CKM	1158	broad.mit.edu	37	19	45818781	45818781	+	Silent	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45818781C>T	uc002pbd.3	-	3	596	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	141	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GTGGGGGCAACGTGTAGCCCT	0.682000														42			4		0	0	0.009096	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	G	G	rs148702086	by1000genomes	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000														36			3		0	0	0.000602	0	0
TEKT5	146279	broad.mit.edu	37	16	10721628	10721628	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:10721628C>T	uc002czz.1	-	6	1342	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	424					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCAGGGTGTCGTCGATGGTG	0.542000														77			5		0	0	0.000602	0	0
GLI3	2737	broad.mit.edu	37	7	42079807	42079807	+	Silent	SNP	G	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:42079807G>T	uc011kbh.2	-	6	949	c.858C>A	c.(856-858)gcC>gcA	p.A286A	GLI3_uc011kbg.2_Silent_p.A227A	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	286					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCTCGGCCTGGCTGACAGCC	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					169			24		1.77063e-15	1.94198e-15	0.005443	1	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														12			3		0	0	0.009096	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														39			13		0	0	0.004007	0	0
KLHL28	54813	broad.mit.edu	37	14	45398354	45398354	+	Silent	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:45398354G>A	uc001wvq.3	-	4	1839	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	KLHL28_uc001wvr.3_Silent_p.V531V	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	531										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGACCACCGACGACATAAA	0.423000														201			39		0	0	0.006999	0	0
UNC5D	137970	broad.mit.edu	37	8	35647893	35647893	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:35647893G>A	uc003xjr.2	+	16	3002	c.2674G>A	c.(2674-2676)Gct>Act	p.A892T	UNC5D_uc003xjs.2_Missense_Mutation_p.A887T|UNC5D_uc003xju.2_Missense_Mutation_p.A468T|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	892	Death.				apoptosis|axon guidance	integral to membrane	receptor activity	p.P892T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATCTTATTTCGCTACACAAAG	0.393000														160			46		0	0	0.003610	0	0
NUAK1	9891	broad.mit.edu	37	12	106461627	106461627	+	Silent	SNP	G	A	A	rs143829749		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:106461627G>A	uc001tlj.1	-	6	2319	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	313							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGTCACACACGCTGCTCTTAT	0.587000														124			32		0	0	0.008361	0	0
KRT38	8687	broad.mit.edu	37	17	39596736	39596736	+	Silent	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39596736G>A	uc002hwq.1	-	0	861	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	146	Linker 1.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGGGCACACGGTGGACTCGT	0.612000														169			52		0	0	0.003610	0	0
PXT1	222659	broad.mit.edu	37	6	36368236	36368236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:36368236G>A	uc003omd.2	-	3	779	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_152990	NP_694535	Q8NFP0	PXT1_HUMAN	Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA.	16						peroxisome											CTCACCTCTCGAACCATCCTA	0.493000														158			29		0	0	0.002096	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165302	118165302	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:118165302C>T	uc003yoh.3	+	2	621	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SLC30A8_uc010mcz.3_Missense_Mutation_p.R82W|SLC30A8_uc003yog.3_Missense_Mutation_p.R82W|SLC30A8_uc011lia.2_Missense_Mutation_p.R82W|SLC30A8_uc022bab.1_Missense_Mutation_p.R82W	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	131					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCCTCTAAGCGGCTGACATT	0.507000														56			15		0	0	0.002450	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000														80			6		0	0	0.001168	0	0
OR1C1	26188	broad.mit.edu	37	1	247920822	247920822	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:247920822T>C	uc010pza.2	-	0	887	c.887A>G	c.(886-888)gAt>gGt	p.D296G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCTCTTCATATCCCTGTTCCT	0.428000														227			47		0	0	0.003214	0	0
HCG27	253018	broad.mit.edu	37	6	31170713	31170713	+	RNA	SNP	T	C	C	rs9263873	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:31170713T>C	uc011dni.2	+	1		c.688T>C								Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA.																		AGGTGAGAGTTTGGGCTCTCG	0.592000														53			3		0	0	0.004672	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160260455	160260455	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:160260455G>T	uc003iqg.4	+	12	2310	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	667	Ras-associating.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAACAAAGAAGACTTCCAGAT	0.438000														267			18		3.41278e-10	3.68364e-10	0.004990	1	0
APPL1	26060	broad.mit.edu	37	3	57282266	57282266	+	Silent	SNP	A	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:57282266A>C	uc003dio.3	+	9	897	c.750A>C	c.(748-750)acA>acC	p.T250T	APPL1_uc010hnb.3_Silent_p.T250T|APPL1_uc011bey.1_Silent_p.T233T	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	250	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGCAACAGACAATAGAGGATT	0.428000														157			57		0	0	0.003610	0	0
P2RY6	5031	broad.mit.edu	37	11	73008405	73008405	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73008405C>T	uc021qnb.1	+	0	842	c.842C>T	c.(841-843)gCg>gTg	p.A281V	P2RY6_uc001otm.3_Missense_Mutation_p.A281V|P2RY6_uc001otn.3_Missense_Mutation_p.A281V|P2RY6_uc001otq.3_Missense_Mutation_p.A281V|P2RY6_uc001otr.3_Missense_Mutation_p.A281V|P2RY6_uc001ots.3_Missense_Mutation_p.A281V	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A280S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCTTTGCAGCGGCCTACAAA	0.602000														155			25		0	0	0.005443	0	0
BEST3	144453	broad.mit.edu	37	12	70048804	70048804	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:70048804G>C	uc001svg.3	-	9	2117	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.I417M|BEST3_uc010stm.2_Missense_Mutation_p.I524M	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	630						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCACAATGTTGATCCCACTGA	0.468000														102			27		0	0	0.004656	0	0
PITPNB	23760	broad.mit.edu	37	22	28315189	28315189	+	Splice_Site	SNP	A	C	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:28315189A>C	uc011akh.2	-	1	1	c.-71_splice	c.e1-1		PITPNB_uc003adk.3_5'UTR|PITPNB_uc003adl.3_5'UTR|TTC28-AS1_uc003adn.3_5'Flank|TTC28-AS1_uc003ado.3_5'Flank|MIR3199-2_uc021wnn.1_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.						lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TCTTCCCGGAACCCCCTCACA	0.682000														88			16		0	0	0.010504	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														63			6		0	0	0.001168	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342409	58342409	+	Missense_Mutation	SNP	C	T	T	rs139799389	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:58342409C>T	uc002yau.3	+	4	1177	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PHACTR3_uc002yat.3_Missense_Mutation_p.P234L|PHACTR3_uc010zzw.2_Missense_Mutation_p.P196L|PHACTR3_uc002yav.3_Missense_Mutation_p.P196L|PHACTR3_uc002yaw.3_Missense_Mutation_p.P196L|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	237	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGCCCACTCCGCCACCCAAG	0.587000														70			22		0	0	0.002299	0	0
C11orf9	745	broad.mit.edu	37	11	61549234	61549234	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:61549234G>A	uc001nsc.1	+	21	3050	c.2954G>A	c.(2953-2955)cGc>cAc	p.R985H	C11orf9_uc001nse.1_Missense_Mutation_p.R950H|C11orf9_uc010rll.1_Missense_Mutation_p.R376H	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	985					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GGCCGGGCCCGCCGAGGGGCC	0.687000														73			34		0	0	0.002445	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				36			7		0	0	0.004482	0	0
PRRC2C	23215	broad.mit.edu	37	1	171511148	171511149	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:171511148_171511149insA	uc010pmg.2	+	15	4803_4804	c.4537_4538insA	c.(4537-4539)gaafs	p.E1513fs	PRRC2C_uc010pmh.2_Frame_Shift_Ins_p.E490fs	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	1513							protein C-terminus binding										AGAGAGGGATGAAAAAAAAAAT	0.391													---	161	---	---	9	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													---	148	---	---	7	---					
CRSP8P	441089	broad.mit.edu	37	5	79646840	79646840	+	RNA	DEL	T	-	-	rs34240292		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:79646840delT	uc010jaj.1	-	0		c.946delA								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		GCGTGGGGGCTTACTGCCGGC	0.632													---	6	---	---	3	---					
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:100382358delA	uc003pqh.1	-	4	938	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_uc003pqi.1_Frame_Shift_Del_p.F208fs	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343													---	146	---	---	32	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:77423460delT	uc003ugn.3	-	1	458	c.231delA	c.(229-231)aaafs	p.K77fs	TMEM60_uc022ago.1_Frame_Shift_Del_p.K77fs	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													---	240	---	---	7	---					
LOC642236	642236	broad.mit.edu	37	9	68429132	68429133	+	RNA	INS	-	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:68429132_68429133insT	uc022bht.1	-	7		c.899_900insA								Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		GAATTTTACTGCTTCTTTACTT	0.317													---	966	---	---	12	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:133759490_133759492delAAG	uc004bzw.3	+	10	1816_1818	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del	ABL1_uc004bzv.3_In_Frame_Del_p.K628del	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	609	Poly-Lys.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								---	318	---	---	11	---					
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	-	-	rs112181516		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:55861308delT	uc010rix.2	+	0	525	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)|p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													---	349	---	---	7	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	A	A	rs56022003		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													---	292	---	---	7	---					
VWA5A	4013	broad.mit.edu	37	11	124007800	124007801	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:124007800_124007801insA	uc001pzu.3	+	14	1913_1914	c.1704_1705insA	c.(1702-1707)gataaafs	p.D568fs	VWA5A_uc001pzt.3_Frame_Shift_Ins_p.D568fs	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	568										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CAGCAAGTGATAAAAAAGATGC	0.480													---	111	---	---	40	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	-	-	rs56192595		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													---	3	---	---	3	---					
TBC1D16	125058	broad.mit.edu	37	17	77926611	77926612	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:77926611_77926612insG	uc002jxj.3	-	3	901_902	c.785_786insC	c.(784-786)ccgfs	p.P262fs	TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	262	Ser-rich.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGGAGCTGGACGGGGGGCTGGT	0.653													---	93	---	---	35	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745032	21745033	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745032_21745033insT	uc002kve.3	-	26	2963_2964	c.2746_2747insA	c.(2746-2748)acgfs	p.T916fs	OSBPL1A_uc002kvd.3_Frame_Shift_Ins_p.T403fs|OSBPL1A_uc010xbc.2_Frame_Shift_Ins_p.T534fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.T916T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTCC	0.530													---	382	---	---	35	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745087	21745087	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745087delC	uc002kve.3	-	26	2909	c.2692delG	c.(2692-2694)gaafs	p.E898fs	OSBPL1A_uc002kvd.3_Frame_Shift_Del_p.E385fs|OSBPL1A_uc010xbc.2_Frame_Shift_Del_p.E516fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	898					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTTGTTTTTCCTCAAGTCGT	0.473													---	336	---	---	34	---					
SLC5A3	6526	broad.mit.edu	37	21	35469260	35469274	+	In_Frame_Del	DEL	ACGGGAAATCTGAAG	-	-	rs145773467	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:35469260_35469274delACGGGAAATCTGAAG	uc021wir.1	+	0	1763_1777	c.1763_1777delACGGGAAATCTGAAG	c.(1762-1779)aacgggaaatctgaagac>aac	p.GKSED589del	SLC5A3_uc002yto.3_In_Frame_Del_p.GKSED589del|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	589						integral to plasma membrane	myo-inositol:sodium symporter activity	p.N588Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCATTCCCAACGGGAAATCTGAAGACAGCATTAA	0.465													---	140	---	---	17	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	207	---	---	10	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	165	---	---	7	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	8	---	---	5	---					
