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
KRT25	147183	broad.mit.edu	37	17	38905539	38905539	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:38905539C>T	uc002hve.3	-	6	1275	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	405	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATTTCCAGATCCATAATCTTT	0.358000														98			9		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685448	125685448	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:125685448A>G	uc022cds.1	-	0	1144	c.1144T>C	c.(1144-1146)Ttc>Ctc	p.F382L	DCAF12L1_uc004eul.3_Missense_Mutation_p.F382L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	382										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCTCCAGGAATTTCTGGGCC	0.622000														49			3		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845623	152845623	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:152845623C>T	uc004fht.1	+	19	3656	c.3530C>T	c.(3529-3531)cCg>cTg	p.P1177L	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.P314L|ATP2B3_uc004fhu.1_Missense_Mutation_p.P129L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1177	Poly-Pro.				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGCCCCCGTCCCCCAAC	0.602000														64			30		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13443692	13443692	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:13443692G>A	uc002mwy.3	-	8	1482	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	CACNA1A_uc010dzc.2_5'Flank|CACNA1A_uc010xnd.2_Missense_Mutation_p.P416S|CACNA1A_uc021ups.1_Missense_Mutation_p.P416S|CACNA1A_uc010xne.2_Missense_Mutation_p.P416S|CACNA1A_uc010dze.2_Missense_Mutation_p.P416S|CACNA1A_uc021upt.1_Missense_Mutation_p.P416S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	416					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCATCAAAGGGATGCCTCTGC	0.567000														26			3		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165584552	165584552	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:165584552C>T	uc002ucp.3	-	3	810	c.588G>A	c.(586-588)caG>caA	p.Q196Q	COBLL1_uc002ucq.3_Silent_p.Q196Q|COBLL1_uc010zcw.2_Silent_p.Q249Q|COBLL1_uc010zcx.2_Silent_p.Q242Q|COBLL1_uc002ucs.1_Non-coding_Transcript	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	234										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAAGAGGCTCCTGCGATTGAT	0.373000														62			9		0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37838725	37838725	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:37838725G>A	uc002ogb.3	+	4	533	c.264G>A	c.(262-264)ggG>ggA	p.G88G	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002ofz.3_Silent_p.G69G|HKR1_uc002oga.3_Silent_p.G69G|HKR1_uc010xto.2_Silent_p.G69G|HKR1_uc002ogc.3_Silent_p.G69G|HKR1_uc010xtp.2_Silent_p.G27G|HKR1_uc002ogd.3_Silent_p.G27G	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	88	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAGCGAGGGGAAGCGCCCT	0.498000														31			3		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626216	142626216	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:142626216C>T	uc003wby.1	-	5	752	c.488_splice	c.e5-1	p.G163_splice	TRPV5_uc003wbz.3_Splice_Site_p.G163_splice	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	163					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGGTGCTCCCCTGTGGACACA	0.597000														17			4		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089666	50089666	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:50089666C>T	uc004dox.4	+	9	3968	c.3670C>T	c.(3670-3672)Cgt>Tgt	p.R1224C	CCNB3_uc004doy.3_Missense_Mutation_p.R1224C|CCNB3_uc004doz.3_Missense_Mutation_p.R120C|CCNB3_uc010njq.3_Missense_Mutation_p.R116C|CCNB3_uc004dpa.3_Missense_Mutation_p.R63C	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1224					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAACTCACCTCGTGTGGATGA	0.463000														32			15		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28294491	28294491	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:28294491T>C	uc003nlc.3	-	3	1062	c.673A>G	c.(673-675)Aag>Gag	p.K225E	ZNF323_uc003nld.3_Missense_Mutation_p.K225E|ZNF323_uc010jra.3_Missense_Mutation_p.K225E|ZNF323_uc003nla.3_Missense_Mutation_p.K225E|ZNF323_uc003nlb.3_Missense_Mutation_p.K66E|ZNF323_uc010jrb.3_Missense_Mutation_p.K66E|ZNF323_uc021yrs.1_Missense_Mutation_p.K225E|ZNF323_uc021yrt.1_Missense_Mutation_p.K66E	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	225					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTTTCTGCCTTGCTGTCTCGT	0.428000														89			16		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457031	7457031	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:7457031T>C	uc001qsx.1	+	0	104	c.104T>C	c.(103-105)cTt>cCt	p.L35P		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	35					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CCTCTGACTCTTGCTGACTTT	0.473000														100			18		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236121	19236121	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:19236121C>T	uc002dfw.3	+	6	1520	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	SYT17_uc002dfx.3_Missense_Mutation_p.P336S|SYT17_uc002dfy.3_Missense_Mutation_p.P393S	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	397	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTTCAAAGTTCCCCAAGAAGA	0.458000														47			10		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476299	88476299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:88476299G>A	uc001kdv.3	+	8	1470	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	LDB3_uc010qml.1_Missense_Mutation_p.E420K|LDB3_uc010qmm.2_Missense_Mutation_p.E488K|LDB3_uc009xsz.3_Missense_Mutation_p.E112K|LDB3_uc001kdu.3_Missense_Mutation_p.E373K|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	483						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGGCCCTGCGGAGCCTGCCAG	0.647000														80			28		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72131228	72131228	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:72131228G>A	uc021rkj.1	-	5	1927	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	552					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTGGGCCCAGGAAGTACATTT	0.408000														53			7		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263088	51263088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:51263088C>T	uc011bds.2	+	14	1284	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	421	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGATATCCGCAATGACCT	0.463000														57			20		0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957967	35957967	+	Silent	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:35957967A>G	uc011lpi.2	-	0	185	c.129T>C	c.(127-129)aaT>aaC	p.N43N		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGGACCCCATTGCCCAGCA	0.557000														47			9		0	0	1	0	0
FAM49B	51571	broad.mit.edu	37	8	130891648	130891648	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:130891648G>A	uc003yss.3	-	5	609	c.60C>T	c.(58-60)ttC>ttT	p.F20F	FAM49B_uc003yst.3_Silent_p.F20F|FAM49B_uc003ysu.3_Silent_p.F20F|FAM49B_uc003ysw.3_Silent_p.F20F|FAM49B_uc003ysx.3_Silent_p.F20F|FAM49B_uc003ysy.1_Silent_p.F20F	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.	20										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CAAAATCAAGGAAAAAATTTG	0.373000														27			6		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767909	77767909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:77767909C>T	uc003yau.2	+	9	9139	c.8752C>T	c.(8752-8754)Ccc>Tcc	p.P2918S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2873S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2918T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCAGCAATCCCTTTAAATC	0.493000										HNSCC(33;0.089)				30			10		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250509	28250509	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:28250509C>T	uc009xky.3	-	9	1472	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Silent_p.V150V|ARMC4_uc001itz.3_Silent_p.V458V|ARMC4_uc010qdu.1_Silent_p.V150V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	458							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAATATTTCACCAGCTTCT	0.378000														56			8		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214542	123214542	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:123214542G>A	uc001ucz.3	-	0	588	c.345C>T	c.(343-345)ttC>ttT	p.F115F	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	115					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GGACCACTTTGAAATACCTGT	0.617000														46			8		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90362398	90362398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:90362398G>A	uc001kff.3	+	8	1103	c.789G>A	c.(787-789)tgG>tgA	p.W263*		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	263					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TGCTTCATTGGAGTCAGGTAT	0.348000														41			4		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922487	55922487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:55922487C>T	uc021wzo.1	-	12	2634	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.E828K|ERC2_uc003dht.1_Missense_Mutation_p.E311K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	832						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.A831A(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTTCTTTTTCGGCCAGGGAC	0.537000														94			31		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799510	76799510	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:76799510G>A	uc002jvz.1	-	15	3092	c.2767C>T	c.(2767-2769)Ctt>Ttt	p.L923F	USP36_uc002jwa.1_Missense_Mutation_p.L923F|USP36_uc002jwb.1_Missense_Mutation_p.L535F|USP36_uc002jwc.1_Missense_Mutation_p.L623F|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	923					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCTTCACCAAGACCTTCTGCT	0.582000														51			7		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121881908	121881908	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:121881908C>T	uc001uat.3	-	15	2462	c.2358G>A	c.(2356-2358)ccG>ccA	p.P786P	KDM2B_uc010szy.2_Silent_p.P226P|KDM2B_uc001uaq.3_Silent_p.P226P|KDM2B_uc001uar.3_Silent_p.P377P|KDM2B_uc001uas.3_Silent_p.P755P|KDM2B_uc021rfd.1_Silent_p.P755P|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.P786P|KDM2B_uc001uao.3_Silent_p.P34P|KDM2B_uc010szx.2_Silent_p.P34P|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	786					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGCCGTCCGGCGGCACCTTCT	0.627000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			18		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172434464	172434464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:172434464C>T	uc001gik.3	+	5	565	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	123										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						ACCCAAATTCCAGACTACACC	0.373000														39			14		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897000	5897000	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr20:5897000G>A	uc002wmg.3	+	1	384	c.78G>A	c.(76-78)agG>agA	p.R26R	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	26						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGGATAACAGGAACCACAATG	0.393000														11			3		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103346827	103346827	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:103346827C>T	uc001vpj.3	-	0	28	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	8							methyltransferase activity	p.S7S(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GGCTGCTGCGCGGAGCTCAGA	0.577000														18			3		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113714963	113714963	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:113714963C>T	uc001vsu.3	+	4	597	c.597C>T	c.(595-597)ttC>ttT	p.F199F	MCF2L_uc001vsq.3_Silent_p.F199F|MCF2L_uc010tjr.2_Silent_p.F142F|MCF2L_uc001vsr.3_Silent_p.F146F|MCF2L_uc001vss.4_Silent_p.F140F|MCF2L_uc010tjs.2_Silent_p.F140F|MCF2L_uc001vst.1_Silent_p.F104F	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	172	CRAL-TRIO.				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGGGTTTTTTCCAAAGGACTC	0.562000														43			4		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675897	183675897	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:183675897C>T	uc003ivd.1	+	20	4452	c.4377C>T	c.(4375-4377)taC>taT	p.Y1459Y	ODZ3_uc003ive.1_Silent_p.Y872Y	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1459					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTGACTGTTACCAGAGTGGAG	0.488000														52			25		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117607	3117607	+	Missense_Mutation	SNP	G	T	T	rs145687578	byFrequency	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:3117607G>T	uc002ctq.3	+	2	340	c.245G>T	c.(244-246)cGt>cTt	p.R82L	IL32_uc002ctn.3_Missense_Mutation_p.R36L|IL32_uc002ctk.3_Missense_Mutation_p.R36L|IL32_uc002cto.3_Missense_Mutation_p.R82L|IL32_uc010uwp.2_Missense_Mutation_p.R36L|IL32_uc010btb.3_Missense_Mutation_p.R26L|IL32_uc002ctl.3_Missense_Mutation_p.R36L|IL32_uc002ctm.3_Missense_Mutation_p.R36L|IL32_uc002ctp.3_Intron|IL32_uc010uwq.1_Missense_Mutation_p.R82L|IL32_uc002ctr.3_Intron|IL32_uc002ctt.3_Missense_Mutation_p.R36L|IL32_uc010uwr.2_Intron|IL32_uc002ctu.3_Missense_Mutation_p.R36L|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	82					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GAATCAGGACGTGGACAGGTG	0.557000														87			14		0.000308642	0.000308642	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140255196	140255196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:140255196C>T	uc003lic.2	+	0	266	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.R47C	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	60	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCTCA	0.652000														67			15		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445603	85445603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:85445603G>A	uc010rth.2	-	5	1155	c.766C>T	c.(766-768)Cct>Tct	p.P256S	SYTL2_uc010rtg.2_Missense_Mutation_p.P257S|SYTL2_uc010rti.2_Missense_Mutation_p.P256S|SYTL2_uc010rtj.2_Missense_Mutation_p.P208S|SYTL2_uc001pbf.4_Missense_Mutation_p.P256S|SYTL2_uc010rtf.2_Missense_Mutation_p.P114S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	256					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTTGTCTAGGAAAAGACTGG	0.473000														75			5		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73623540	73623540	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:73623540C>T	uc010dgl.3	-	19	3147	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	RECQL5_uc010dgk.3_Missense_Mutation_p.E953K|RECQL5_uc002jot.4_Missense_Mutation_p.E176K	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	980					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E953K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTCAGCTTCGCTCTCGCAC	0.627000								Other identified genes with known or suspected DNA repair function						97			10		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719963	95719963	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:95719963A>T	uc009xuj.2	-	0	1710	c.1191T>A	c.(1189-1191)ttT>ttA	p.F397L						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GAATCTTCTTAAATACCGTGT	0.498000														68			8		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813502	106813502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:106813502G>A	uc003ymd.3	+	7	1215	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E129K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	398					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGTGACATGGAACACTCTCC	0.502000														65			13		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11778031	11778031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:11778031G>A	uc010buu.1	-	11	2367	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S	TXNDC11_uc002dbg.1_Missense_Mutation_p.P742S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	769	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGTTGCAGGGAAAAAACAAG	0.408000														20			3		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288801	125288801	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:125288801G>A	uc004bmn.1	-	0	772	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGAGGACACAGGTAGGCACTG	0.537000														26			9		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353207	121353207	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:121353207C>T	uc003eeh.4	-	9	875	c.750G>A	c.(748-750)agG>agA	p.R250R	HCLS1_uc011bjj.2_Silent_p.R213R|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	250					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCTCGCTTCCTCTTCTCCT	0.547000														44			10		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33312736	33312736	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:33312736A>G	uc003tdn.1	+	7	1328	c.815A>G	c.(814-816)aAg>aGg	p.K272R	BBS9_uc003tdo.1_Missense_Mutation_p.K272R|BBS9_uc003tdp.1_Missense_Mutation_p.K272R|BBS9_uc003tdq.1_Missense_Mutation_p.K272R|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Missense_Mutation_p.K272R|BBS9_uc011kao.1_Missense_Mutation_p.K150R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	272					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L271L(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTTGCCTTAAGGATAATGGA	0.373000									Bardet-Biedl syndrome					118			13		0	0	1	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666038	27666038	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:27666038G>A	uc002rks.3	+	3	418	c.371G>A	c.(370-372)gGt>gAt	p.G124D	KRTCAP3_uc010ylr.2_Missense_Mutation_p.G124D|KRTCAP3_uc021vfd.1_Missense_Mutation_p.G124D|KRTCAP3_uc002rkt.3_Missense_Mutation_p.G106D	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	124						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					GTGGCCAACGGTGGCCGCCGC	0.617000														123			10		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683191	6683191	+	Missense_Mutation	SNP	G	A	A	rs143419082		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:6683191G>A	uc010vtg.2	+	1	124	c.4G>A	c.(4-6)Gac>Aac	p.D2N		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	2										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TTCCTGGATGGACGAAGAAAG	0.507000														47			3		0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326766	142326766	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:142326766G>A	uc003vzo.2	+	1	259	c.64G>A	c.(64-66)Gga>Aga	p.G22R	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CGTGGATGGTGGAATCACTCA	0.527000														66			11		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054075	2054075	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:2054075C>T	uc003wpx.4	+	21	2916	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MYOM2_uc011kwi.2_Silent_p.I351I	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	926	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGGCAACATCTATCTGGGCT	0.473000														48			10		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691963	18691963	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:18691963G>A	uc001bau.2	+	5	1170	c.787G>A	c.(787-789)Gag>Aag	p.E263K	IGSF21_uc001bav.2_Missense_Mutation_p.E84K	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	263						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCAACCACAGAGAACATACC	0.672000														116			27		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73205311	73205311	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:73205311C>T	uc010izf.3	+	33	4412	c.4236C>T	c.(4234-4236)ctC>ctT	p.L1412L	RGNEF_uc011csq.2_Silent_p.L1412L|RGNEF_uc021yam.1_Silent_p.L1412L|RGNEF_uc011csr.2_Silent_p.L1099L|RGNEF_uc003kcz.4_Silent_p.L376L|RGNEF_uc003kda.4_Silent_p.L332L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1412					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GCCTGTCTCTCGGCCACTCTA	0.607000														12			4		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102941	61102941	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:61102941T>C	uc001vhz.4	+	10	2091	c.1303T>C	c.(1303-1305)Tat>Cat	p.Y435H	TDRD3_uc010aef.2_Missense_Mutation_p.Y260H|TDRD3_uc001via.3_Missense_Mutation_p.Y435H|TDRD3_uc010aeg.3_Missense_Mutation_p.Y528H|TDRD3_uc001vib.4_Missense_Mutation_p.Y434H	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	435					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATCTGTAGATTATAATAATCA	0.338000														27			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678524	100678524	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:100678524G>A	uc003uxp.1	+	2	3880	c.3827G>A	c.(3826-3828)gGa>gAa	p.G1276E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1276	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTAGTGAAGGAAGTACTCTA	0.502000														270			53		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362522	36362522	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:36362522C>T	uc002oce.3	+	4	684	c.546C>T	c.(544-546)agC>agT	p.S182S	APLP1_uc010xsz.2_Silent_p.S143S|APLP1_uc002ocf.3_Silent_p.S182S|APLP1_uc002ocg.3_Silent_p.S85S|APLP1_uc010xta.2_Silent_p.S176S	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	182					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCCTGCAGCTCCCAGGGCC	0.642000														52			14		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236589	42236589	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:42236589C>T	uc003ose.2	-	4	1303	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TRERF1_uc011duq.1_Missense_Mutation_p.G247E|TRERF1_uc003osb.2_Missense_Mutation_p.G86E|TRERF1_uc003osc.2_Missense_Mutation_p.G86E|TRERF1_uc003osd.2_Missense_Mutation_p.G247E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	247	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTGTCCTCCCTGCACTGG	0.602000														50			6		0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563173	45563173	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:45563173A>G	uc002zec.4	+	5	694	c.608A>G	c.(607-609)aAg>aGg	p.K203R	C21orf33_uc002zed.4_Missense_Mutation_p.K172R	NM_004649	NP_004640	P30042	ES1_HUMAN	Homo sapiens chromosome 21 open reading frame 33 (C21orf33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	203						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GAAGGTGGCAAGTGGCCTTAT	0.627000														29			6		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103293071	103293071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:103293071G>A	uc022ajr.1	-	13	1850	c.1690C>T	c.(1690-1692)Ctc>Ttc	p.L564F	RELN_uc022ajq.1_Missense_Mutation_p.L564F|RELN_uc010liz.3_Missense_Mutation_p.L564F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	564					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTAGAAGGGAGAACAGGCAAG	0.438000														62			21		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676149	37676149	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:37676149G>A	uc002ofq.3	-	4	2542	c.2290C>T	c.(2290-2292)Cat>Tat	p.H764Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.H578Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCTCTGATGAACACTGAAC	0.458000														80			8		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192733	34192733	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:34192733G>A	uc011kap.2	+	15	2280	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	636	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.Y635*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCTGTGTACGATACCTGTGG	0.507000														124			20		0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130473571	130473571	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:130473571G>A	uc004brn.1	+	3	691	c.651G>A	c.(649-651)acG>acA	p.T217T	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	217										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGTGACCACGAACCGGATGT	0.577000														23			4		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028583	37028583	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:37028583C>T	uc004ddl.2	+	0	2152	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	700										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGTGTCCCGTCTCCACC	0.652000														34			14		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087949	49087949	+	Missense_Mutation	SNP	G	A	A	rs113480935		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:49087949G>A	uc001rsd.4	-	8	1371	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	CCNT1_uc009zkz.2_Missense_Mutation_p.R65W|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	350					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TCACTAGTCCGATGACCCTGA	0.463000														81			24		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843624	75843624	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:75843624G>A	uc021zbv.1	-	31	5649	c.5614C>T	c.(5614-5616)Cgt>Tgt	p.R1872C	COL12A1_uc021zbw.1_Missense_Mutation_p.R708C|COL12A1_uc003phs.3_Missense_Mutation_p.R1872C|COL12A1_uc003pht.3_Missense_Mutation_p.R708C	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1872	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTACTGACGAGGATTTCCC	0.448000														61			4		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38185157	38185157	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:38185157G>A	uc002hts.3	-	12	1606	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	MED24_uc010wes.2_Missense_Mutation_p.S304F|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.S444F|MED24_uc002htu.3_Missense_Mutation_p.S431F|MED24_uc010cwn.3_Missense_Mutation_p.S431F|MED24_uc010weu.2_Missense_Mutation_p.S354F|MED24_uc010wev.1_Missense_Mutation_p.S394F|MED24_uc010wew.1_Missense_Mutation_p.S385F|MED24_uc010wex.1_Missense_Mutation_p.S149F	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	444					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACTCTTCCCGGACAGCATGTG	0.582000														52			10		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202788	28202788	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:28202788C>A	uc001zbh.4	-	15	1840	c.1730G>T	c.(1729-1731)gGg>gTg	p.G577V	OCA2_uc010ayv.3_Missense_Mutation_p.G553V	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	577					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCACCTTCCCCAGCAGCAG	0.657000									Oculocutaneous Albinism					44			9		5.68852e-11	5.80368e-11	1	1	0
TOM1L2	146691	broad.mit.edu	37	17	17766051	17766051	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:17766051C>T	uc002grz.4	-	10	1353	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	TOM1L2_uc002gry.4_Missense_Mutation_p.R349H|TOM1L2_uc010vwy.2_Missense_Mutation_p.R346H|TOM1L2_uc010cpr.3_Missense_Mutation_p.R354H|TOM1L2_uc010vwz.2_Missense_Mutation_p.R251H|TOM1L2_uc010vxa.2_Missense_Mutation_p.R301H|TOM1L2_uc002grv.4_Missense_Mutation_p.R132H	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	399					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527000														198			4		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3548013	3548013	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:3548013C>A	uc002lxw.3	-	3	840	c.670G>T	c.(670-672)Gtg>Ttg	p.V224L	MFSD12_uc002lxx.3_Missense_Mutation_p.V224L|MFSD12_uc002lxy.3_Missense_Mutation_p.V215L|MFSD12_uc002lxz.3_Missense_Mutation_p.V224L	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	224					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ACACCCACCACCAGCAGGGAC	0.701000														31			4		0.00024832	0.000249309	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043605	20043605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:20043605C>T	uc002dgu.1	-	1	676	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	GPR139_uc010vaw.1_Missense_Mutation_p.E79K	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	172						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGTAGTCTTCAGTCCAGATG	0.517000														28			7		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121203251	121203251	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:121203251C>T	uc001led.3	+	11	1486	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	GRK5_uc009xzh.3_Missense_Mutation_p.S283F	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	418	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAGGCCAAGTCCATCTGCAAG	0.642000														22			4		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323203	31323203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:31323203C>T	uc010dmg.1	+	11	3446	c.3391C>T	c.(3391-3393)Cct>Tct	p.P1131S	ASXL3_uc002kxq.2_Missense_Mutation_p.P838S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCGGTTGCCTCCTCCGCTCAG	0.478000														20			4		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141568589	141568589	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:141568589G>A	uc003yvn.3	-	6	914	c.873C>T	c.(871-873)caC>caT	p.H291H	EIF2C2_uc010meo.3_Silent_p.H291H|EIF2C2_uc010men.3_Silent_p.H214H	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	291	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GTTACGTTTGGTGACTGGCGG	0.582000														66			19		0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109748299	109748299	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:109748299C>T	uc010kdp.3	-	3	1062	c.481G>A	c.(481-483)Gag>Aag	p.E161K	PPIL6_uc003ptg.4_Missense_Mutation_p.E161K|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	161	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AGTATCACCTCAAAAATCAAT	0.303000														16			8		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801678	14801678	+	Silent	SNP	G	A	A	rs75281180	by1000genomes	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:14801678G>A	uc003zlm.3	-	20	4482	c.3666C>T	c.(3664-3666)caC>caT	p.H1222H	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1222					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAAGCTGTGAACAGGTG	0.428000														24			21		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112642585	112642585	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:112642585T>C	uc003dzj.1	-	7	1219	c.986A>G	c.(985-987)aAc>aGc	p.N329S	CD200R1_uc003dzk.1_Missense_Mutation_p.N306S|CD200R1_uc011bhx.1_3'UTR	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	306					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.T328A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTTCACCTTGTTTGTAGTATC	0.378000														33			6		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290979	141290979	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:141290979G>A	uc022cfj.1	-	0	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F	MAGEC2_uc004fbu.2_Silent_p.F265F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	265	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATAGACGAAGTGCTCCC	0.507000										HNSCC(46;0.14)				41			22		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	758338	758338	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:758338G>A	uc002lpo.3	+	1	1475	c.1392G>A	c.(1390-1392)acG>acA	p.T464T		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	464								p.T464P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGGCCACGATGTCCCCGA	0.617000														50			9		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131543412	131543412	+	Missense_Mutation	SNP	C	T	T	rs141239435		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:131543412C>T	uc003kwh.3	-	7	1633	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	P4HA2_uc003kwg.3_Missense_Mutation_p.A357T|P4HA2_uc003kwi.3_Missense_Mutation_p.A357T|P4HA2_uc003kwk.3_Missense_Mutation_p.A357T|P4HA2_uc003kwl.3_Missense_Mutation_p.A357T|P4HA2_uc003kwj.3_Missense_Mutation_p.A357T	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	357						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TTAGGTTTTGCGATCTCCTTG	0.517000														61			4		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28196592	28196592	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:28196592C>T	uc009xky.3	-	17	2708	c.2610_splice	c.e17+1	p.K870_splice	ARMC4_uc010qds.2_Splice_Site_p.K395_splice|ARMC4_uc010qdt.2_Splice_Site_p.K562_splice|ARMC4_uc001itz.3_Splice_Site_p.K870_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	870							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCGTTCTTACCTTTGCATTTT	0.438000														21			4		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31300973	31300973	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:31300973G>A	uc010sjy.1	-	10	1287	c.1287C>T	c.(1285-1287)cgC>cgT	p.R429R						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGGAGTAAAAGCGTGAGACTA	0.453000														147			6		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063399	194063399	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:194063399G>A	uc003fts.3	-	1	123	c.33C>T	c.(31-33)tcC>tcT	p.S11S	CPN2_uc021xix.1_Silent_p.S11S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	11					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGAGCAGGAGGGAGGTCCAGA	0.587000														23			7		0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151141482	151141482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:151141482G>A	uc001ewz.3	+	6	745	c.614G>A	c.(613-615)gGa>gAa	p.G205E	SCNM1_uc021oyk.1_Missense_Mutation_p.G170E|SCNM1_uc021oym.1_Non-coding_Transcript|SCNM1_uc021oyn.1_Missense_Mutation_p.G170E	NM_024041	NP_001191785	Q9BWG6	SCNM1_HUMAN	Homo sapiens sodium channel modifier 1 (SCNM1), transcript variant 1, mRNA.	205					RNA splicing|mRNA processing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCCCAGATGGACGAGGTCGA	0.453000														40			12		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														11			3		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426088	19426088	+	RNA	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:19426088G>A	uc010tcj.1	-	0		c.20022C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCAAGGAAGGATGTTTTGCA	0.318000														73			8		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607264	55607264	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:55607264G>A	uc002qix.3	-	8	1214	c.1198C>T	c.(1198-1200)Ccg>Tcg	p.P400S	PPP1R12C_uc010yfs.2_Missense_Mutation_p.P326S|PPP1R12C_uc002qiy.3_Missense_Mutation_p.P400S|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	400						cytoplasm		p.P400T(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGTGCGGCGGGGAGGAGACG	0.612000														69			31		0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57094314	57094314	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:57094314A>T	uc001njt.3	-	15	2188	c.1921T>A	c.(1921-1923)Tcc>Acc	p.S641T	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	641	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GAGGGCGTGGATTTCTTTTCC	0.498000														39			6		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472193	28472193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:28472193C>T	uc021yrx.1	-	4	592	c.542G>A	c.(541-543)tGg>tAg	p.W181*	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	181					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.R180P(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTCAAAGTTCCAGCGGATATC	0.527000														41			3		0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132631868	132631868	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:132631868G>A	uc001ujz.1	+	3	429	c.388G>A	c.(388-390)Gga>Aga	p.G130R	DDX51_uc001ujy.4_5'Flank	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	130					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCAGCTGGAAGGAGCGCACCC	0.652000														3			3		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607256	110607257	+	Missense_Mutation	DNP	GG	AA	AA	rs121908168		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:110607256_110607257GG>AA	uc001dzb.3	-	1	634_635	c.546_547CC>TT	c.(544-549)gcccgg>gcTTgg	p.R183W		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	183			R -> W (in FND1).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCTGCTCCCGGGCATACACAT	0.594000														31			7		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902842	4902842	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:4902842G>A	uc002mbm.3	-	0	38	c.38C>T	c.(37-39)cCc>cTc	p.P13L		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	13					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AGACATGGGGGGTTGGGGGGT	0.527000														38			17		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901848	52901848	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:52901848G>A	uc002lga.3	-	16	1783	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	TCF4_uc021ukg.1_Missense_Mutation_p.P313S|TCF4_uc021ukh.1_Missense_Mutation_p.P313S|TCF4_uc002lfw.4_Missense_Mutation_p.P313S|TCF4_uc010xdu.1_Missense_Mutation_p.P343S|TCF4_uc010xdv.1_Missense_Mutation_p.P343S|TCF4_uc021uki.1_Missense_Mutation_p.P402S|TCF4_uc002lfx.2_Missense_Mutation_p.P402S|TCF4_uc010xdw.1_Missense_Mutation_p.P343S|TCF4_uc002lfy.2_Missense_Mutation_p.P431S|TCF4_uc010xdx.1_Missense_Mutation_p.P449S|TCF4_uc021ukj.1_Missense_Mutation_p.P413S|TCF4_uc021ukk.1_Missense_Mutation_p.P413S|TCF4_uc021ukl.1_Missense_Mutation_p.P470S|TCF4_uc002lfz.2_Missense_Mutation_p.P473S|TCF4_uc010dph.1_Missense_Mutation_p.P473S|TCF4_uc010dpi.3_Missense_Mutation_p.P479S|TCF4_uc010xdy.1_Missense_Mutation_p.P449S	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	473					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGTGGAACCGGAACCTGGTTT	0.602000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			16		0	0	1	0	0
BCL2A1	597	broad.mit.edu	37	15	80263245	80263245	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:80263245G>T	uc002bfc.4	-	0	399	c.217C>A	c.(217-219)Caa>Aaa	p.Q73K	BCL2A1_uc002bfd.4_Missense_Mutation_p.Q73K	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA.	73					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCATCACTTGGTTGAATAGT	0.393000														120			29		1.08312e-15	1.10954e-15	1	1	0
PCNX	22990	broad.mit.edu	37	14	71575507	71575507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:71575507C>T	uc001xmo.2	+	33	6934	c.6488C>T	c.(6487-6489)tCa>tTa	p.S2163L	PCNX_uc010are.1_Missense_Mutation_p.S2052L|PCNX_uc010arf.1_Missense_Mutation_p.S951L|PCNX_uc001xmp.2_Missense_Mutation_p.S247L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2163	Ser-rich.					integral to membrane		p.S2163L(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AACTTGCCATCATCCATCCAA	0.572000														40			7		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40582260	40582260	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:40582260G>A	uc001zld.3	-	29	3534	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	PLCB2_uc001zlc.3_Missense_Mutation_p.S62F|PLCB2_uc010bbo.3_Missense_Mutation_p.S1074F|PLCB2_uc010ucm.2_Missense_Mutation_p.S1063F	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1078					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTGGATGTGGGAGTTGTTAAT	0.468000														43			6		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756264	10756264	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:10756264A>G	uc003wtk.1	-	2	1151	c.1124T>C	c.(1123-1125)tTt>tCt	p.F375S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	375						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AAAGAGGGCAAAAGAGATCAC	0.547000														46			4		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055094	62055094	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:62055094C>T	uc002eog.2	-	1	1169	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	72	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAAACTCTTCCAGGACAAAC	0.423000														40			5		0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14677067	14677067	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:14677067G>A	uc002mzg.3	-	2	369	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C		NM_004146	NP_004137	P17568	NDUB7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa (NDUFB7), nuclear gene encoding mitochondrial protein, mRNA.	98					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	TCCTTCATGCGCATCACATAG	0.667000														39			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737548	13737548	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:13737548C>T	uc003jfd.2	-	65	11310	c.11268G>A	c.(11266-11268)agG>agA	p.R3756R	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3756	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3756M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCCTTCATCCTTCTTTTGT	0.373000									Kartagener syndrome					48			6		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:18891609G>A	uc001rdy.3	+	0	565	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	136					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.G136A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403000														49			6		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65822642	65822642	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:65822642C>T	uc001ogy.1	+	3	394	c.354C>T	c.(352-354)ggC>ggT	p.G118G	SF3B2_uc001ogx.1_Silent_p.G118G	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	118					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTGGCCTTGGCTTTCCTATGG	0.652000														44			20		0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560521	32560521	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:32560521G>A	uc001iwg.1	-	13	2669	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	EPC1_uc001iwi.3_Missense_Mutation_p.S727F|EPC1_uc001iwh.1_Missense_Mutation_p.S777F	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	800					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGGGACCTTGGAAACTTGACA	0.433000														92			21		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:70455304C>T	uc011caq.2	-	6	1984	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	UGT2A1_uc010ihu.3_Missense_Mutation_p.R457Q|UGT2A1_uc003hem.4_Missense_Mutation_p.R457Q|UGT2A1_uc010ihs.3_Missense_Mutation_p.R466Q|UGT2A1_uc021xox.1_Missense_Mutation_p.R422Q|UGT2A1_uc010iht.3_Missense_Mutation_p.R413Q	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448000														63			19		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2415763	2415763	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:2415763G>A	uc010xgx.2	+	9	1567	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	523	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTGAAGGAAGGGTCCCG	0.677000														32			17		0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086109	74086109	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:74086109G>A	uc001xop.3	+	1	521	c.190G>A	c.(190-192)Gat>Aat	p.D64N		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	Homo sapiens acyl-CoA thioesterase 6 (ACOT6), mRNA.	64						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACTTGTCGATGATCTAGGAAA	0.403000														66			4		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45397874	45397874	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:45397874G>A	uc001zun.3	-	17	2504	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	DUOX2_uc010bea.3_Silent_p.I767I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	767					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGATCTCCAGGATGCGTTCCC	0.562000														61			17		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11337309	11337309	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:11337309G>A	uc002rbd.1	-	26	3894	c.3445C>T	c.(3445-3447)Cca>Tca	p.P1149S		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1149					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCCATACCTGGAAACCCATCA	0.418000														48			11		0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46750981	46750981	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:46750981G>A	uc001ndf.4	+	11	1567	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	508	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCAACCTGAAGGAGACGTGGA	0.632000														89			7		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236659084	236659084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:236659084G>A	uc002vvs.3	+	5	1223	c.625G>A	c.(625-627)Gag>Aag	p.E209K	AGAP1_uc002vvt.3_Missense_Mutation_p.E209K|AGAP1_uc021vyp.1_Missense_Mutation_p.E209K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	209	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACGTACTACGAGACGTGTGC	0.537000														97			11		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1279761	1279761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:1279761G>A	uc009xhq.3	-	5	1714	c.1388C>T	c.(1387-1389)tCg>tTg	p.S463L		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	463	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CACGAATATCGATCGCTCTGA	0.527000														37			7		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382590	51382591	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:51382590_51382591GG>AA	uc001wyu.3	-	9	1318_1319	c.1191_1192CC>TT	c.(1189-1194)ctccct>ctTTct	p.P398S	PYGL_uc010tqq.2_Missense_Mutation_p.P364S|PYGL_uc010anz.1_Missense_Mutation_p.P204S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	398					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAATGTCGAGGGAGCAGCTTCT	0.485000														29			4		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905646	2905646	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:2905646G>A	uc002cry.1	-	3	554	c.488C>T	c.(487-489)cCt>cTt	p.P163L		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	163	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGAGGCATCAGGTAGGCAGAT	0.587000														58			7		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722068	141722068	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:141722068G>A	uc003vwy.3	+	7	765	c.711_splice	c.e7-1	p.L237_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	237	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTGTCTAGGTTTGACTCGA	0.517000														45			7		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730273	93730273	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:93730273G>A	uc001ybo.3	-	3	1555	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Missense_Mutation_p.S59F|BTBD7_uc001ybq.4_Missense_Mutation_p.S325F	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	410										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATATGGATGAGAACTCCACTT	0.408000														42			4		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88828806	88828806	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:88828806C>T	uc002stb.2	+	3	499	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	119						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						TGCACCTGGCCCAGGGTGACC	0.587000														56			15		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570979	104570979	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:104570979C>T	uc001yop.2	+	8	1042	c.957C>T	c.(955-957)gtC>gtT	p.V319V	ASPG_uc001yoo.2_Silent_p.V347V|ASPG_uc001yoq.2_Silent_p.V319V|ASPG_uc001yor.2_Silent_p.V319V	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	319	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGCCGGCGTCATCTCAGGCT	0.682000														22			4		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555432	50555432	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:50555432C>T	uc001zxz.3	-	2	546	c.204_splice	c.e2+1	p.G68_splice	HDC_uc010uff.2_Splice_Site_p.G68_splice|HDC_uc010bet.2_Splice_Site_p.G68_splice|HDC_uc010beu.2_Splice_Site_p.G68_splice	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	68					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGTGTCTCACCCCAGGCATGA	0.582000														97			10		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004825	74004825	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:74004825C>T	uc010wss.1	-	21	4755	c.4527G>A	c.(4525-4527)caG>caA	p.Q1509Q	EVPL_uc002jqi.2_Silent_p.Q1487Q|EVPL_uc010wst.1_Silent_p.Q957Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1487	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCTTCTCCTGGTCCAGGT	0.572000														93			14		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436091	3436092	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:3436091_3436092CC>TT	uc002fvr.2	-	7	1246_1247	c.924_925GG>AA	c.(922-927)gaggac>gaAAac	p.D309N	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.D293N|TRPV3_uc010vri.1_Missense_Mutation_p.D264N|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.D309N|TRPV3_uc010vrj.1_Missense_Mutation_p.D293N|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.D293N|TRPV3_uc002fvu.3_Missense_Mutation_p.D309N|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	309						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCTTGAAGTCCTCGGCCACGG	0.579000														39			4		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175712	143175712	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:143175712C>T	uc003wdc.1	+	0	747	c.747C>T	c.(745-747)tcC>tcT	p.S249S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTTTCTGTCCCTGATCATTG	0.507000														66			10		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76476288	76476288	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:76476288C>T	uc003yaq.3	+	10	1454	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	HNF4G_uc003yar.3_Missense_Mutation_p.S432L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	395					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACCAAGCATCAGTCATTTCA	0.413000														92			22		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540842	55540842	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:55540842C>T	uc003xsd.1	+	3	4548	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1467					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1466*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATTGGAATCTTTTGAAGAA	0.378000														21			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208464	140208464	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:140208464G>A	uc003lho.2	+	0	815	c.788G>A	c.(787-789)aGa>aAa	p.R263K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R263K|PCDHAC2_uc011dab.2_Missense_Mutation_p.R263K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	278	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTTATCAGACTGAATGCT	0.408000														59			6		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:1730378C>T	uc003gdo.3	+	3	1404	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	TACC3_uc010ibz.3_Missense_Mutation_p.P417S|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000														48			13		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39873121	39873121	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:39873121G>A	uc010lwy.1	+	10	1505	c.1263G>A	c.(1261-1263)taG>taA	p.*421*	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Silent_p.*162*|IDO2_uc003xnp.1_Silent_p.*162*	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	0					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CACGTGGTTAGGAGGCTGCCC	0.557000														41			8		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179554673	179554673	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:179554673C>A	uc003mlq.3	-	4	947	c.650G>T	c.(649-651)cGg>cTg	p.R217L	RASGEF1C_uc003mlr.3_Missense_Mutation_p.R217L|RASGEF1C_uc003mlp.4_Missense_Mutation_p.R66L	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	217	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGATGTGCCGCAGCCGCTC	0.627000														14			3		0.00024832	0.000249309	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509799	106509799	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:106509799G>A	uc003vdv.4	+	1	1878	c.1793G>A	c.(1792-1794)tGg>tAg	p.W598*	PIK3CG_uc003vdu.3_Nonsense_Mutation_p.W598*|PIK3CG_uc003vdw.3_Nonsense_Mutation_p.W598*	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	598					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAGTGAAATGGGGACAGCAA	0.438000														82			14		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336563	126336563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:126336563G>A	uc003ifj.4	+	4	6445	c.6445G>A	c.(6445-6447)Gat>Aat	p.D2149N	FAT4_uc011cgp.2_Missense_Mutation_p.D447N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2149	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACATCAATGATAACAACCC	0.378000														75			15		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16138351	16138351	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:16138351C>T	uc010bvi.3	+	7	1029	c.854C>T	c.(853-855)cCg>cTg	p.P285L	ABCC1_uc010bvj.3_Missense_Mutation_p.P285L|ABCC1_uc010bvk.3_Missense_Mutation_p.P285L|ABCC1_uc010bvl.3_Missense_Mutation_p.P285L|ABCC1_uc010bvm.3_Missense_Mutation_p.P285L|ABCC1_uc002del.4_Missense_Mutation_p.P169L|ABCC1_uc010bvn.3_Missense_Mutation_p.P148L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	285					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTGCCCAGCCGAAAGAGAGT	0.557000														34			3		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:196825573G>A	uc002utj.4	-	17	2403	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000														79			14		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230654432	230654432	+	Silent	SNP	A	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:230654432A>T	uc002vpx.1	-	30	4618	c.4509T>A	c.(4507-4509)atT>atA	p.I1503I	TRIP12_uc021vxw.1_Silent_p.I1488I|TRIP12_uc002vpy.1_Silent_p.I1185I|TRIP12_uc002vpw.1_Silent_p.I1455I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1455	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGTGTGGGAATGAGGTAAA	0.363000														64			9		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756497	35756497	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:35756497G>A	uc021rid.1	+	29	5197	c.4663_splice	c.e29-1	p.D1555_splice	NBEA_uc021ric.1_Splice_Site_p.D1552_splice|NBEA_uc010abi.3_Splice_Site_p.D243_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1555						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTTCATAGGATGATAGCAA	0.343000														48			8		0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144124642	144124642	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:144124642A>C	uc003ijb.3	+	4	1666	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	USP38_uc003ija.4_Missense_Mutation_p.T378P|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	378					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGTACAATTAACAGAATTGAT	0.333000														47			24		0	0	1	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65390803	65390803	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:65390803C>T	uc010tsl.2	+	1	269	c.215C>T	c.(214-216)tCc>tTc	p.S72F	CHURC1-FNTB_uc010tsk.2_Missense_Mutation_p.S72F|CHURC1-FNTB_uc010tsj.2_Missense_Mutation_p.S72F|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Missense_Mutation_p.S72F|CHURC1-FNTB_uc001xhv.2_Missense_Mutation_p.S45F|CHURC1-FNTB_uc001xhw.2_Missense_Mutation_p.S72F	NM_001202559	NP_001189488	B4DL54	B4DL54_HUMAN	Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA.	45					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										ACAAACAAATCCTTGAAAGAA	0.393000														52			8		0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225446	192225446	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:192225446G>A	uc010fsg.2	+	7	907	c.652G>A	c.(652-654)Gag>Aag	p.E218K	MYO1B_uc002usq.2_Missense_Mutation_p.E218K|MYO1B_uc002usr.2_Missense_Mutation_p.E218K|MYO1B_uc002uss.1_Missense_Mutation_p.E218K	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	218	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGCCTCTGAAGAGCTCCTCAG	0.448000														90			6		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55539276	55539276	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:55539276C>T	uc002ehz.4	+	12	2216	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	MMP2_uc010vhd.2_Silent_p.A559A|MMP2_uc010ccc.3_Silent_p.A585A	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	635	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCAAGGGTGCCTATTACCTGA	0.527000														97			25		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282993	39282993	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:39282993G>A	uc003oor.4	-	4	890	c.876C>T	c.(874-876)ctC>ctT	p.L292L	KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Intron|KCNK16_uc010jwy.3_Intron	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCCGGGATGGAGTGGTCTAA	0.567000														14			3		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323666	9323666	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:9323666T>G	uc001apt.3	+	4	1387	c.1114T>G	c.(1114-1116)Ttg>Gtg	p.L372V		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	372	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CGCTCGGATCTTGTTCAAGAA	0.612000														54			5		0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219110154	219110154	+	Silent	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:219110154A>G	uc002vhd.3	+	7	673	c.561A>G	c.(559-561)gaA>gaG	p.E187E	ARPC2_uc002vhe.3_Silent_p.E187E|ARPC2_uc002vhf.3_Silent_p.E73E|TRNA_uc021vws.1_5'Flank|TRNA_uc021vwt.1_5'Flank	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	187					cellular component movement	Arp2/3 protein complex|Golgi apparatus|cell projection	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGTTCAAAGAAGGACGCAGAG	0.517000														61			9		0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261045	30261045	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:30261045C>T	uc004dcb.3	+	0	989	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	265	MAGE.							p.P265H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAACAGTGATCCCCCACGCTA	0.502000														21			11		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655039	31655039	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:31655039C>A	uc002ynv.3	-	0	238	c.212G>T	c.(211-213)tGc>tTc	p.C71F		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	71						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGAGATTTGCAGGTTGGTGC	0.532000														40			12		9.31168e-06	9.42387e-06	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652223	15652223	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:15652223A>C	uc003stc.3	-	2	985	c.704T>G	c.(703-705)tTc>tGc	p.F235C		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	235					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTGTTTTGGAACCAGACTTT	0.418000														66			9		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112194136	112194136	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:112194136G>A	uc009zvx.3	+	22	3333	c.3133_splice	c.e22-1	p.A1045_splice	ACAD10_uc001tsq.3_Splice_Site_p.A1014_splice|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	1014							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTGTCTGCCAGGCCTTTGGAG	0.632000														18			3		0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45051207	45051207	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:45051207G>A	uc004dgg.2	-	1	362	c.287C>T	c.(286-288)tCt>tTt	p.S96F	CXorf36_uc004dgi.3_Missense_Mutation_p.S96F	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	96						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TGCAGGATAAGAAAGCAAGGA	0.483000														16			4		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66431973	66431973	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:66431973C>T	uc002eom.4	+	8	1605	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	483	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCAAGCCCTACCAGCCCAAAG	0.572000														95			21		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218844	8218844	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:8218844C>T	uc003gkv.4	+	6	890	c.789C>T	c.(787-789)tcC>tcT	p.S263S	SH3TC1_uc003gkw.4_Silent_p.S187S|SH3TC1_uc003gkx.4_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	263							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGTGTCCTCCGAGGAGGTGG	0.662000														21			4		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799858	74799858	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:74799858C>T	uc010rro.2	-	0	901	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GCCTTTACATCCCTGTTTCTC	0.483000														58			14		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924340	188924340	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:188924340G>A	uc003izh.1	+	3	787	c.379G>A	c.(379-381)Gta>Ata	p.V127I	ZFP42_uc003izi.1_Missense_Mutation_p.V127I|ZFP42_uc021xvm.1_Missense_Mutation_p.V127I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	127					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V127L(2)|p.V127fs*1(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAAAAGGGGTAAAGAAAGA	0.418000														108			8		0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56140705	56140705	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:56140705G>A	uc011kcw.2	+	2	328	c.297G>A	c.(295-297)gaG>gaA	p.E99E	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_5'UTR|SUMF2_uc003trv.3_Silent_p.E99E|SUMF2_uc011kcy.2_Silent_p.E99E|SUMF2_uc011kcz.2_Silent_p.E99E|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Silent_p.E99E	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	80						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTCAGGGAGAAAAAGTATC	0.473000														25			9		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600480	31600480	+	Missense_Mutation	SNP	C	T	T	rs61743577		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr22:31600480C>T	uc003akb.3	+	6	687	c.487C>T	c.(487-489)Cct>Tct	p.P163S	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Missense_Mutation_p.P101S|RNF185_uc003akc.3_Missense_Mutation_p.P101S|RNF185_uc003ake.3_Missense_Mutation_p.P107S	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	163						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCAGCTGTCCCTGGGACACC	0.517000														67			17		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105859672	105859672	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:105859672G>A	uc001yqu.3	+	24	3100	c.2596_splice	c.e24+1	p.V866_splice	PACS2_uc001yqs.2_Splice_Site_p.V776_splice|PACS2_uc001yqt.3_Splice_Site_p.V851_splice|PACS2_uc001yqv.3_Splice_Site_p.V855_splice	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	851					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CATGCTGCGGGGTGAGCACCA	0.617000														33			4		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702692	88702692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:88702692C>T	uc001kea.3	-	5	1976	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	MMRN2_uc010qmn.2_Missense_Mutation_p.E260K|MMRN2_uc009xtb.2_Missense_Mutation_p.E574K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	617						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCAGCACCTCCTCCCCGAAG	0.731000														10			4		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306869	99306869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:99306869C>T	uc003uru.3	-	10	1145	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	348					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGCACAGTATCATAGGTGGGT	0.378000														32			10		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414966	46414966	+	Silent	SNP	G	A	A	rs333	byFrequency	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:46414966G>A	uc003cpo.4	+	2	695	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CCR5_uc010hjd.3_Silent_p.K191K|CCR5_uc021wxb.1_Silent_p.K191K	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	191					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity	p.K191N(2)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AATTCTGGAAGAATTTCCAGA	0.448000														156			35		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211518789	211518789	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:211518789G>A	uc010fur.3	+	29	3621	c.3539G>A	c.(3538-3540)cGa>cAa	p.R1180Q	CPS1_uc002vee.4_Missense_Mutation_p.R1174Q|CPS1_uc010fus.3_Missense_Mutation_p.R723Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1174	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A1180T(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAAGGGGCCCGAGAAGTAGAA	0.423000														40			10		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325379	31325379	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:31325379G>A	uc010dmg.1	+	11	5622	c.5567G>A	c.(5566-5568)gGg>gAg	p.G1856E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1563E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATGTTAAAGGGGTGCCTTGT	0.458000														175			11		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361487	124361487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:124361487G>A	uc001lgk.1	+	28	3624	c.3518G>A	c.(3517-3519)gGa>gAa	p.G1173E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1163E|DMBT1_uc001lgm.1_Missense_Mutation_p.G674E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1173E|DMBT1_uc021qag.1_Missense_Mutation_p.G1163E|DMBT1_uc021qah.1_Missense_Mutation_p.G674E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1173E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1173	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCGG	0.602000														77			22		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63173858	63173858	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:63173858G>A	uc002jfe.3	+	8	794	c.591G>A	c.(589-591)atG>atA	p.M197I	RGS9_uc021ubw.1_Missense_Mutation_p.M197I|RGS9_uc010dem.3_Missense_Mutation_p.M197I|RGS9_uc002jfd.3_Missense_Mutation_p.M197I	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	197					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGCCTGGAATGGACAATGTGC	0.463000														71			7		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64601265	64601265	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:64601265C>T	uc001obs.4	-	21	2510	c.2510G>A	c.(2509-2511)aGg>aAg	p.R837K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	837					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCCTCCATGCCTTGTGGCCTC	0.647000														62			11		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76749711	76749711	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:76749711G>A	uc001sye.1	-	23	3108	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	OSBPL8_uc001syf.1_Silent_p.L834L|OSBPL8_uc001syg.1_Silent_p.L834L	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	876					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GCAAAATCAGGAGGAAAATGA	0.358000														31			6		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688743	137688744	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:137688743_137688744CC>GT	uc004cfe.3	+	35	3276_3277	c.2894_2895CC>GT	c.(2893-2895)ccc>cGT	p.P965R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	965	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G964G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGGCCCCCCTGTAAGTA	0.589000														59			18		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48580158	48580158	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:48580158G>C	uc002efp.3	-	5	2470	c.2233C>G	c.(2233-2235)Cag>Gag	p.Q745E		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	745					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AACGTGTACTGCAGCAGCCTA	0.527000														48			5		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323568	15323568	+	RNA	SNP	T	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:15323568T>C	uc002yji.2	-	2		c.842A>G								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		AGGAAGGATGTTTTGCAGGAG	0.318000														104			16		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220331918	220331918	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:220331918G>A	uc010fwg.3	+	9	2904	c.2904G>A	c.(2902-2904)ctG>ctA	p.L968L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	968	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCGGTCCCTGGCCGTGCTGG	0.677000											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		113			17		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45821516	45821516	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:45821516G>A	uc011bai.2	-	2	463	c.339C>T	c.(337-339)ctC>ctT	p.L113L	SLC6A20_uc011baj.2_Silent_p.L113L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	113					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGAGTGGAAGAGGTACCAGA	0.627000														3			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994732	140994732	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:140994732C>T	uc004fbt.3	+	3	1866	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L173L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	514							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTCCTCTCCAGATTCCTC	0.507000										HNSCC(15;0.026)				58			36		0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:11022906C>T	uc002mpz.3	+	4	731	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(4)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000														267			5		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381647	108381647	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:108381647G>A	uc001pkk.3	-	5	4698	c.4587C>T	c.(4585-4587)aaC>aaT	p.N1529N	EXPH5_uc010rvz.2_Silent_p.N1373N|EXPH5_uc010rvy.2_Silent_p.N1341N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1529					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTCTCTAAGTTTGGTTCAT	0.433000														25			6		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153928	45153928	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:45153928G>A	uc003com.3	-	2	437	c.302C>T	c.(301-303)tCa>tTa	p.S101L	CDCP1_uc003con.3_Missense_Mutation_p.S101L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	101						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACATGGGCCTGACATACAGTC	0.507000														109			30		0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109748297	109748297	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:109748297C>T	uc010kdp.3	-	4	1064	c.483_splice	c.e4+1	p.E161_splice	PPIL6_uc003ptg.4_Splice_Site_p.E161_splice|PPIL6_uc021zdq.1_Splice_Site	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	161	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AAAGTATCACCTCAAAAATCA	0.308000														16			8		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122001057	122001057	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:122001057A>C	uc022akp.1	-	24	3820	c.3398T>G	c.(3397-3399)gTg>gGg	p.V1133G	CADPS2_uc003vkg.4_Missense_Mutation_p.V787G|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.V1092G|CADPS2_uc022akr.1_Missense_Mutation_p.V1133G	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1133					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCCTTCCAACACTGAAACAAA	0.348000														22			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632760	179632760	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:179632760C>T	uc021vsy.1	-	38	9511	c.9286G>A	c.(9286-9288)Gaa>Aaa	p.E3096K	TTN_uc021vsz.1_Missense_Mutation_p.E3050K|TTN_uc021vta.1_Missense_Mutation_p.E3050K|TTN_uc021vtb.1_Missense_Mutation_p.E3050K|TTN_uc002unb.2_Missense_Mutation_p.E3096K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3096	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGCAGTTCCTGGTCATCT	0.418000														54			5		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428221	54428221	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:54428221C>T	uc002iun.1	+	3	327	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	98										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CGCAGCCAAACGCCTGTACAG	0.453000														58			10		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518175	8518175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:8518175C>T	uc003zkk.3	-	20	1959	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	PTPRD_uc003zkp.3_Missense_Mutation_p.E406K|PTPRD_uc003zkq.3_Missense_Mutation_p.E406K|PTPRD_uc003zkr.3_Missense_Mutation_p.E400K|PTPRD_uc003zks.3_Missense_Mutation_p.E396K|PTPRD_uc022bdj.1_Missense_Mutation_p.E403K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	406	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCACAGGTTCGCTGGGAGGC	0.542000										TSP Lung(15;0.13)				87			52		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280647	152280647	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:152280647G>A	uc001ezu.1	-	2	6751	c.6715C>T	c.(6715-6717)Cgg>Tgg	p.R2239W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2239	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCCGGGGCCTGCTT	0.577000									Ichthyosis					159			45		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13523065	13523065	+	Silent	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:13523065A>G	uc001imm.2	-	5	1038	c.741T>C	c.(739-741)tcT>tcC	p.S247S	BEND7_uc001imn.3_Silent_p.S8S|BEND7_uc001imo.4_Silent_p.S260S	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	299							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGACAATATAGAGTCCAGCT	0.403000														70			3		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113333	161113333	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:161113333C>T	uc003lyu.2	+	1	474	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	46					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)	CTATGACAATCGGCTGCGGCC	0.493000										TCGA Ovarian(5;0.080)				58			7		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066487	46066487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:46066487G>A	uc002zfr.4	+	0	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697000														43			11		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:175372465C>T	uc001gkp.1	-	1	868	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_uc009wwu.1_Missense_Mutation_p.E263K|TNR_uc010pmz.1_Missense_Mutation_p.E263K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(2)|p.R262R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCAGTTCCCTGCAGTCC	0.637000														37			9		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690878	38690878	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:38690878C>T	uc021yzh.1	+	1	402	c.293C>T	c.(292-294)tCg>tTg	p.S98L	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTGATTTCGGAAGTGCTG	0.502000														57			13		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328342	61328342	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:61328342C>T	uc002lji.3	-	1	253	c.109G>A	c.(109-111)Gca>Aca	p.A37T	SERPINB3_uc002ljg.3_Missense_Mutation_p.A37T|SERPINB3_uc010dqa.3_Missense_Mutation_p.A37T|SERPINB3_uc010dqb.3_Missense_Mutation_p.A37T|SERPINB3_uc010dqc.2_Missense_Mutation_p.A37T	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	37					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATCCCTAATGCTGATGTGATG	0.418000														65			14		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130677018	130677018	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:130677018C>T	uc004bss.3	-	2	391	c.115G>A	c.(115-117)Gac>Aac	p.D39N	ST6GALNAC4_uc004bst.3_5'UTR	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	39					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AAGTGGTGGTCCAGGCAGGTG	0.642000														12			7		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782973	80782973	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:80782973T>C	uc010ysh.2	+	10	1701	c.1696T>C	c.(1696-1698)Tat>Cat	p.Y566H	CTNNA2_uc010yse.2_Missense_Mutation_p.Y566H|CTNNA2_uc010ysf.2_Missense_Mutation_p.Y566H|CTNNA2_uc010ysg.2_Missense_Mutation_p.Y566H|CTNNA2_uc010ysi.2_Missense_Mutation_p.Y198H	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	566					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCTGGGGTTTATACTGAGAA	0.473000														87			14		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829763	61829763	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:61829763C>T	uc001jky.3	-	36	11214	c.10876G>A	c.(10876-10878)Gaa>Aaa	p.E3626K	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.	3626					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						AGCCTCTCTTCAACAAAATCC	0.473000														42			5		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040432	103040432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:103040432G>A	uc002tbx.3	+	3	716	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	78					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGTAGTAACGACCTATCTGA	0.438000														24			7		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685575	51685575	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:51685575C>T	uc001ryg.3	-	9	1367	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	BIN2_uc009zlz.3_Missense_Mutation_p.A407T|BIN2_uc001ryh.3_Missense_Mutation_p.A315T|BIN2_uc010sng.2_Missense_Mutation_p.A413T	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	439	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCCAGAGGCTGTAGGGCTG	0.622000														32			8		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27215684	27215684	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:27215684G>T	uc003nja.3	+	1	109	c.94G>T	c.(94-96)Gag>Tag	p.E32*	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Nonsense_Mutation_p.E32*|PRSS16_uc003njc.1_5'Flank|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	32					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCTGGGTGAGCACATTCA	0.632000														59			12		9.31168e-06	9.42387e-06	1	1	0
SRGAP3	9901	broad.mit.edu	37	3	9034696	9034696	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:9034696C>T	uc003brf.1	-	19	3128	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	SRGAP3_uc003brg.1_Missense_Mutation_p.E794K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	818					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGCTGGCCTCGCTGTCAGCC	0.572000			T	RAF1	pilocytic astrocytoma									35			5		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626623	6626623	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:6626623C>T	uc003mwy.1	+	2	355	c.321C>T	c.(319-321)ccC>ccT	p.P107P		NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	107					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CGGCTCTGCCCAAGTTTTCTT	0.488000														38			13		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31152904	31152904	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:31152904G>A	uc002ebd.3	-	11	1846	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	PRSS36_uc010vff.2_Missense_Mutation_p.P371L|PRSS36_uc010vfg.2_Missense_Mutation_p.P591L|PRSS36_uc010vfh.2_Missense_Mutation_p.P596L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	596	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCCCACTGGAGCAGCCTC	0.682000														51			4		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200457	31200457	+	Silent	SNP	A	G	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:31200457A>G	uc002ebf.3	+	8	951	c.846A>G	c.(844-846)tcA>tcG	p.S282S	FUS_uc002ebe.2_Silent_p.S278S|FUS_uc002ebg.3_Silent_p.S77S|FUS_uc002ebh.3_Silent_p.S281S|FUS_uc010caj.1_Intron	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	282					cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGGATAATTCAGACAACAACA	0.378000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									104			8		0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103298056	103298056	+	Silent	SNP	T	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:103298056T>A	uc001kta.3	+	12	1697	c.1584T>A	c.(1582-1584)atT>atA	p.I528I	BTRC_uc001ktb.3_Silent_p.I492I|BTRC_uc001ktc.3_Silent_p.I502I	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	528					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTAGAAAAATTAAAGTGTGGG	0.423000														62			5		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33049960	33049960	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr20:33049960C>T	uc010geu.1	+	14	1673	c.1481C>T	c.(1480-1482)cCa>cTa	p.P494L	ITCH_uc002xak.2_Missense_Mutation_p.P453L|ITCH_uc010zuj.1_Missense_Mutation_p.P343L	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	494	WW 4.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GATGGAATTCCATATTTTGTG	0.348000														47			10		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027271	79027271	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:79027271C>T	uc003kgc.3	+	1	2755	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	895						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACGATACACACCCTCTTCTAC	0.468000														22			7		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993821	35993821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:35993821G>A	uc004ddj.3	+	14	2570	c.2504G>A	c.(2503-2505)aGt>aAt	p.S835N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	835										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATGTACCCAGTGGACACATC	0.393000														29			20		0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117584	4117584	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:4117584G>A	uc002lzk.3	-	1	390	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	46					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCGTCAAGTTCCAGCTCC	0.572000														69			11		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56161183	56161183	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:56161183G>A	uc003jqw.4	+	4	1553	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	351				R -> H (in Ref. 2; AAC97073).	MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGCTGTGCACGTGGAACATTC	0.348000														46			6		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466381	50466381	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:50466381G>A	uc001vdk.2	+	0	1837	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TTCCCTCCAGGGGGAGGAGGA	0.532000														56			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584164	179584164	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:179584164G>A	uc021vsy.1	-	79	20446	c.20221C>T	c.(20221-20223)Cct>Tct	p.P6741S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3402S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7668	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAGGAAGGAGGCACAATC	0.488000														67			9		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255187	70255187	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:70255187G>A	uc003tvw.4	+	18	3720	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	AUTS2_uc003tvx.4_Silent_p.E971E|AUTS2_uc011keg.2_Silent_p.E447E	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	995										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGCCTCCAGAGGCCCCGCAGA	0.697000														24			6		0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855532	183855532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:183855532C>T	uc003fmp.3	+	2	809	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	EIF2B5_uc003fmq.3_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.	149					RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCTGACTTTCTTCTGGTGTA	0.463000														24			7		0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49628257	49628257	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:49628257C>T	uc001jgp.3	+	4	559	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MAPK8_uc001jgn.3_Silent_p.F170F|MAPK8_uc001jgm.3_Silent_p.F170F|MAPK8_uc001jgo.3_Silent_p.F170F|MAPK8_uc001jgq.3_Silent_p.F170F|MAPK8_uc009xoa.3_Silent_p.F170F|MAPK8_uc021ppy.1_Silent_p.F170F|MAPK8_uc010qgk.2_Silent_p.F170F	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	170	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTCTTGACTTCGGTCTGGCCA	0.413000														60			7		0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90321375	90321375	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:90321375A>T	uc002bon.3	+	1	1004	c.1004A>T	c.(1003-1005)cAg>cTg	p.Q335L	MESP2_uc010uqa.2_Missense_Mutation_p.Q37L	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	335					Notch signaling pathway	nucleus	DNA binding			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)			CAGAGACTGCAGCCTCAGACC	0.637000														29			7		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34478338	34478338	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:34478338G>A	uc001mvm.3	+	7	1119	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	344					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity	p.I343V(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACCTGGCATTGAGGCCAGTCC	0.488000														24			3		0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214498026	214498026	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:214498026C>T	uc021pix.1	+	5	610	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	SMYD2_uc021piw.1_Missense_Mutation_p.H101Y|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	193	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AGAACTTTCTCATTTGGGATC	0.338000														82			18		0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76488735	76488735	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:76488735G>A	uc001xsg.2	+	2	247	c.213G>A	c.(211-213)tcG>tcA	p.S71S	IFT43_uc001xsf.2_Non-coding_Transcript|IFT43_uc010asl.1_Silent_p.S71S|IFT43_uc010asm.1_Silent_p.S71S|IFT43_uc010tve.2_Non-coding_Transcript|IFT43_uc001xse.2_Silent_p.S71S	NM_052873	NP_443105	Q96FT9	IFT43_HUMAN	Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 1, mRNA.	71					cilium morphogenesis|intraflagellar retrograde transport			p.S71S(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGAAGGCTTCGAAGTGAGTAC	0.478000														87			14		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927100	31927100	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:31927100C>T	uc003nyn.1	+	1	438	c.49C>T	c.(49-51)Cta>Tta	p.L17L	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	17						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCCCCTGGACCTACCCCTTCG	0.582000														318			69		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554789	150554789	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:150554789C>T	uc003why.1	+	2	5449	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	ABP1_uc003whz.1_Missense_Mutation_p.H411Y|ABP1_uc003wia.1_Missense_Mutation_p.H411Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	411					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGACCCGGTCCATTATCCCCG	0.577000														73			17		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					39			10		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89986740	89986740	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:89986740G>A	uc003kju.3	+	30	6929	c.6833G>A	c.(6832-6834)gGa>gAa	p.G2278E	GPR98_uc003kjt.3_Missense_Mutation_p.D12N|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2278					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCATTAATGGACAGCTTGCT	0.488000														30			3		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691266	153691266	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:153691266C>T	uc003imy.3	-	1	1712	c.891G>A	c.(889-891)aaG>aaA	p.K297K	TIGD4_uc021xtf.1_Silent_p.K297K	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	297	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATTTTAGGTTCTTTACCTCTG	0.353000														100			25		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990618	197990618	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:197990618G>A	uc021vuj.1	-	4	598	c.405C>T	c.(403-405)gtC>gtT	p.V135V	ANKRD44_uc021vuk.1_Silent_p.V110V|ANKRD44_uc002uub.3_Silent_p.V135V|ANKRD44_uc010zgw.2_Silent_p.V63V|ANKRD44_uc002uuc.3_Silent_p.V135V	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	135							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGGTCGGAGACATTGACAC	0.557000														102			21		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:69621313C>T	uc010lyz.3	+	9	1618	c.1327_splice	c.e9+1	p.D443_splice	C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	357					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343000														21			3		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28913433	28913433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:28913433G>A	uc001usb.3	-	16	2645	c.2360C>T	c.(2359-2361)tCt>tTt	p.S787F	FLT1_uc001usa.3_Missense_Mutation_p.S5F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	787					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATTTCAGAAGAAGACTGAGA	0.383000														27			4		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647549	10647549	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:10647549C>T	uc010rcc.1	-	8	1718	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	MRVI1_uc010rcb.1_Silent_p.Q436Q|MRVI1_uc001miw.2_Silent_p.Q435Q|MRVI1_uc001mix.3_Silent_p.Q129Q|MRVI1_uc001miz.2_Silent_p.Q353Q|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Silent_p.Q129Q|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	417					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCGCACGGGCTGCACTTGTA	0.597000														18			6		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114817546	114817546	+	Silent	SNP	G	A	A	rs34594581		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:114817546G>A	uc001vui.3	-	2	389	c.258C>T	c.(256-258)ttC>ttT	p.F86F	RASA3_uc010tkk.2_Silent_p.F54F|RASA3_uc001vuj.3_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	86	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATCCCTCCGGAAAACGTCTC	0.453000														30			5		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														50			11		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169569529	169569529	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:169569529G>A	uc003fgc.1	-	6	1102	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	LRRC31_uc010hwp.1_Missense_Mutation_p.S290L	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	346										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGTTGGCTGATAAATCCAA	0.393000														47			11		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20681305	20681305	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:20681305C>T	uc002dhm.1	-	4	824	c.756G>A	c.(754-756)agG>agA	p.R252R	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.R252R	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	252					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCGTAATTTCCTACTAACTC	0.512000														16			4		0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685526	50685526	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:50685526C>T	uc003jor.3	+	3	1073	c.525C>T	c.(523-525)caC>caT	p.H175H		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	175					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCCACGTCCACAAGCAGCCGG	0.716000														26			4		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000														8			4		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039382	31039382	+	Silent	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:31039382G>A	uc002nsu.1	+	3	2994	c.2856G>A	c.(2854-2856)gtG>gtA	p.V952V	ZNF536_uc010edd.1_Silent_p.V952V	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCACGGAGTGGATGGTGGTG	0.537000														129			32		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508119	37508119	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:37508119G>A	uc021ppc.1	+	33	3410	c.3311G>A	c.(3310-3312)aGg>aAg	p.R1104K	ANKRD30A_uc001iza.1_Missense_Mutation_p.R1104K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1160						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTAACTAAAAGGGCATCTCAA	0.333000														112			29		0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19626088	19626089	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:19626088_19626089GG>AA	uc002nmr.3	-	0	381_382	c.148_149CC>TT	c.(148-150)ccg>TTg	p.P50L	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	50	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GACGAAGTCCGGGGGCGCTCGC	0.614000														32			9		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50373952	50373952	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:50373952G>A	uc021thx.1	-	5	797	c.637C>T	c.(637-639)Cca>Tca	p.P213S	BRD7_uc002ege.2_Missense_Mutation_p.P213S	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	213	Bromo.				Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATGGTCTCTGGTTTATTGTAA	0.333000														62			8		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262417	7262417	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:7262417G>A	uc009xio.2	-	10	1377	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	SFMBT2_uc001ijn.2_Missense_Mutation_p.S429F|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTCACAACGGAGGCCACACA	0.517000														155			40		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844357	123844357	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:123844357C>T	uc001lfv.3	+	3	2702	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P781L|TACC2_uc010qtv.2_Missense_Mutation_p.P781L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	781						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGCCACATCCCCCCCAGGGG	0.637000														50			5		0	0	1	0	0
SNAPC5	10302	broad.mit.edu	37	15	66782785	66782785	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:66782785G>A	uc002apt.1	-	1	338	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	MAP2K1_uc010bhq.3_Intron|MAP2K1_uc010ujp.2_Intron|SNAPC5_uc002apu.1_3'UTR			O75971	SNPC5_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 5, 19kDa (SNAPC5), mRNA.	0					transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						TTCCTGGTGGGTTTTGTTTTT	0.473000														42			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069874	9069874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:9069874C>T	uc002mkp.3	-	2	17776	c.17572G>A	c.(17572-17574)Gaa>Aaa	p.E5858K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5860	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGCCATTTCTGTGGATCCT	0.493000														112			24		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5565961	5565961	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:5565961A>T	uc010qzh.2	-	0	793	c.793T>A	c.(793-795)Ttc>Atc	p.F265I	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGGAGAAAAAGGCAGGT	0.502000														34			5		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097172	119097172	+	Silent	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:119097172C>T	uc004bjn.3	+	12	3811	c.3430C>T	c.(3430-3432)Ctg>Ttg	p.L1144L	PAPPA_uc011lxp.1_Silent_p.L839L|PAPPA_uc011lxq.2_Silent_p.L519L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1144					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GAACAATCCCCTGATTATCCC	0.632000														36			13		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934293	56934293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:56934293C>T	uc010ygl.1	+	4	431	c.266C>T	c.(265-267)tCa>tTa	p.S89L	ZNF583_uc002qnc.2_Missense_Mutation_p.S89L|ZNF583_uc010ygm.1_Missense_Mutation_p.S89L	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGTGAATTTTCATCAAAGCAA	0.313000														31			4		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814897	128814897	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:128814897G>A	uc003ifo.3	+	12	2697	c.2423G>A	c.(2422-2424)gGt>gAt	p.G808D	PLK4_uc011cgs.2_Missense_Mutation_p.G776D|PLK4_uc011cgt.2_Missense_Mutation_p.G767D	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	808					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGAAAACCTGGTAGTACTAGT	0.353000														101			12		0	0	1	0	0
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	-	-	rs74661005	by1000genomes	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													---	4	---	---	3	---					
DST	667	broad.mit.edu	37	6	56501426	56501426	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:56501426delG	uc003pcy.4	-	8	1486	c.1378delC	c.(1378-1380)cagfs	p.Q460fs	DST_uc021zay.1_Frame_Shift_Del_p.Q826fs|DST_uc021zax.1_Frame_Shift_Del_p.Q460fs|DST_uc003pdc.4_Frame_Shift_Del_p.Q460fs|DST_uc003pdd.4_Frame_Shift_Del_p.Q460fs	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	786					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCTCCACTGCGTCTGCATT	0.448													---	82	---	---	19	---					
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:34398063delA	uc001uuz.3	+	2	345	c.235delA	c.(235-237)aaafs	p.K79fs	RFC3_uc001uva.3_Frame_Shift_Del_p.K79fs|RFC3_uc010ted.1_Frame_Shift_Del_p.K79fs	NM_002915	NP_002906	P40938	RFC3_HUMAN	Homo sapiens replication factor C (activator 1) 3, 38kDa (RFC3), transcript variant 1, mRNA.	79					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|response to organophosphorus|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269													---	8	---	---	5	---