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
OR8B12	219858	broad.mit.edu	37	11	124412768	124412768	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:124412768G>A	uc010sam.2	-	0	783	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGATGGAAAGGGGTTTGAGAT	0.443000														47			10		0	0	0.361761	0	0
SPATA21	374955	broad.mit.edu	37	1	16736383	16736383	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16736383C>T	uc001ayn.3	-	5	783	c.300G>A	c.(298-300)cgG>cgA	p.R100R	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.R77R	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	100							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCGAGGCTCTCCGATGGGAGG	0.662000														29			20		0	0	0.624587	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520822	69520822	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:69520822C>T	uc021xow.1	-	3	1242	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	362					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAAGAAGGTCATTCTGGGGT	0.353000														137			29		0	0	0.788014	0	0
LRMP	4033	broad.mit.edu	37	12	25260825	25260825	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:25260825C>T	uc001rgh.3	+	20	2425	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	LRMP_uc010sja.2_Missense_Mutation_p.S444F|LRMP_uc010sjc.2_Missense_Mutation_p.S444F|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.S391F|LRMP_uc010sjd.2_Missense_Mutation_p.S391F	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	500					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTCTGGCTCTCTATTGCATTC	0.438000														58			46		0	0	0.870114	0	0
RANBP2	5903	broad.mit.edu	37	2	109379960	109379960	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:109379960C>T	uc002tem.4	+	19	3091	c.2965C>T	c.(2965-2967)Cat>Tat	p.H989Y		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	989					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTGCAGCTCATGCTTCAAG	0.423000														38			45		0	0	0.870114	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677325	3677325	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:3677325C>T	uc002wja.3	-	9	2591	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R864Q	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	864	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCCAGTTCTCGGACCTCTAA	0.592000														68			39		0	0	0.853193	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996580	143996580	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:143996580C>T	uc003yxk.1	-	2	480	c.477G>A	c.(475-477)ccG>ccA	p.P159P		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	159					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.L158I(1)|p.L158P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CATCCACCATCGGGAGGAACC	0.632000									Familial Hyperaldosteronism type I					24			4		0	0	0.248553	0	0
OR4C46	119749	broad.mit.edu	37	11	51515461	51515461	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:51515461C>T	uc010ric.2	+	0	180	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTACCTTTCCCTGGCCTATC	0.463000														159			90		0	0	0.870114	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171124	150171124	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:150171124C>T	uc003whj.3	+	3	1037	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	236						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGCTGCAGTCCACAGGACCC	0.532000														145			48		0	0	0.870114	0	0
MST1P2	11209	broad.mit.edu	37	1	16974955	16974955	+	RNA	SNP	A	G	G	rs149751487	by1000genomes	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16974955A>G	uc010och.2	+	6		c.1415A>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCATGCTTTGATGTCTGGGAC	0.657000														95			4		0	0	0.217242	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237460	30237460	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:30237460G>A	uc022buf.1	+	0	763	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	MAGEB2_uc004dbz.3_Missense_Mutation_p.E255K	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	255	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCTGGTGCAGGAAAAATATCT	0.498000														27			7		0	0	0.278610	0	0
GZMB	3002	broad.mit.edu	37	14	25101178	25101178	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:25101178C>T	uc001wps.2	-	3	552	c.486G>A	c.(484-486)gaG>gaA	p.E162E	GZMB_uc010ama.2_Silent_p.E150E|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	162	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATCTTCACCTCTTGTAGTG	0.537000														89			30		0	0	0.750413	0	0
FAM65C	140876	broad.mit.edu	37	20	49236604	49236604	+	Missense_Mutation	SNP	G	A	A	rs145939916		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:49236604G>A	uc010zyt.2	-	2	439	c.188C>T	c.(187-189)aCg>aTg	p.T63M	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.T59M|FAM65C_uc002xvn.1_Missense_Mutation_p.T59M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	59										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCCGCAGCGTGCCGTACAT	0.547000														100			24		0	0	0.717897	0	0
ANK3	288	broad.mit.edu	37	10	61832907	61832907	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:61832907C>T	uc001jky.3	-	36	8070	c.7732G>A	c.(7732-7734)Gac>Aac	p.D2578N	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.	2578					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						ACAGTCCTGTCCACCCTATCT	0.423000														68			3		0	0	0.150653	0	0
ZNF41	7592	broad.mit.edu	37	X	47307452	47307452	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47307452G>A	uc004dhs.4	-	3	1910	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y	ZNF41_uc004dhu.4_Missense_Mutation_p.H607Y|ZNF41_uc004dht.4_Missense_Mutation_p.H487Y|ZNF41_uc004dhv.4_Missense_Mutation_p.H583Y|ZNF41_uc004dhw.4_Missense_Mutation_p.H575Y|ZNF41_uc004dhy.4_Missense_Mutation_p.H573Y|ZNF41_uc004dhx.4_Missense_Mutation_p.H573Y|ZNF41_uc011mlm.2_Missense_Mutation_p.H487Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCCAATATGAGATTTCTGA	0.438000														38			9		0	0	0.361761	0	0
FAM5B	57795	broad.mit.edu	37	1	177250488	177250488	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:177250488C>T	uc001glf.3	+	7	2488	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	FAM5B_uc001glg.3_Missense_Mutation_p.R621W	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	726						extracellular region		p.R726L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCAGGGACCGGGTGAACCA	0.537000														84			24		0	0	0.681144	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540140	111540140	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:111540140G>A	uc003kpv.1	-	14	1582	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	EPB41L4A_uc003kpp.1_Silent_p.F63F	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	436						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCGTGTAAGGGAACTTTGGCG	0.498000														117			49		0	0	0.870114	0	0
TAF1L	138474	broad.mit.edu	37	9	32633513	32633513	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:32633513C>T	uc003zrg.1	-	0	2155	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	689					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTGTGAGATCCTGAGGTGTG	0.433000														45			34		0	0	0.827153	0	0
SLC26A5	375611	broad.mit.edu	37	7	103038451	103038451	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:103038451C>T	uc003vbz.3	-	8	1161	c.899G>A	c.(898-900)gGa>gAa	p.G300E	SLC26A5_uc003vbt.2_Missense_Mutation_p.G300E|SLC26A5_uc003vbu.2_Missense_Mutation_p.G300E|SLC26A5_uc003vbv.2_Missense_Mutation_p.G300E|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.G300E	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	300					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.G300*(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AATGCCAGTTCCCATTACGAC	0.363000														82			81		0	0	0.870114	0	0
EIF6	3692	broad.mit.edu	37	20	33872285	33872285	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:33872285C>T	uc002xbv.1	-	0	222	c.6G>A	c.(4-6)gcG>gcA	p.A2A	EIF6_uc002xbx.1_Silent_p.A2A|EIF6_uc002xbz.1_Silent_p.A2A|EIF6_uc002xby.1_Non-coding_Transcript	NM_181468	NP_852133	P56537	IF6_HUMAN	Homo sapiens eukaryotic translation initiation factor 6 (EIF6), transcript variant 2, mRNA.	2					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	p.A2fs*25(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAGCTCGGACCGCCATGAGGC	0.637000														125			47		0	0	0.870114	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059401	152059401	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:152059401C>T	uc001ezo.1	-	2	822	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	253							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCTTCCTGTTCTCCAAACTGG	0.453000														114			46		0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9016683	9016683	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9016683G>A	uc002mkp.3	-	27	38258	c.38054C>T	c.(38053-38055)cCa>cTa	p.P12685L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12687					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						GAGGGAGGATGGAGTCCCTGA	0.483000														32			12		0	0	0.520397	0	0
CST6	1474	broad.mit.edu	37	11	65780320	65780320	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:65780320C>T	uc001ogr.3	+	1	318	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CST6_uc001ogs.1_5'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	88					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						TCAAGTACTTCCTGACGATGG	0.607000														77			20		0	0	0.654019	0	0
OR51E1	143503	broad.mit.edu	37	11	4673817	4673817	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4673817C>T	uc021qcq.1	+	0	61	c.61C>T	c.(61-63)Cct>Tct	p.P21S	OR51E1_uc001lzi.4_Missense_Mutation_p.P21S	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATAGGCCTCCCTGGTTTAGA	0.493000														119			54		0	0	0.870114	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995292	140995292	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:140995292G>A	uc004fbt.3	+	3	2426	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.G360E	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	701							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)					CCTCTTGAGGGAGAGGACTCC	0.567000										HNSCC(15;0.026)				49			14		0	0	0.435327	0	0
CASR	846	broad.mit.edu	37	3	121980746	121980746	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:121980746C>T	uc003eew.4	+	3	1302	c.864C>T	c.(862-864)atC>atT	p.I288I	CASR_uc003eev.4_Silent_p.I288I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	288					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCGCAATATCACGGGCAAGA	0.572000														59			21		0	0	0.654019	0	0
FAM46D	169966	broad.mit.edu	37	X	79699086	79699086	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:79699086C>T	uc022bzm.1	+	0	1048	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	FAM46D_uc004edl.1_Nonsense_Mutation_p.Q350*|FAM46D_uc004edm.2_Nonsense_Mutation_p.Q350*	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	350										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTGCTTTTATCAGCCTGCTCC	0.453000														41			26		0	0	0.717897	0	0
NARG2	79664	broad.mit.edu	37	15	60728370	60728370	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:60728370C>T	uc002agp.3	-	12	2717	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	NARG2_uc002ago.3_Missense_Mutation_p.E691K	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	828						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTTTAATTCTTCTGAGGTA	0.274000														20			8		0	0	0.387290	0	0
LPAR1	1902	broad.mit.edu	37	9	113703746	113703746	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:113703746G>A	uc011lwo.2	-	1	753	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	LPAR1_uc004bfa.3_Missense_Mutation_p.R250W|LPAR1_uc011lwm.2_Missense_Mutation_p.R251W|LPAR1_uc004bfc.3_Missense_Mutation_p.R250W|LPAR1_uc011lwn.2_Missense_Mutation_p.R232W|LPAR1_uc004bfb.3_Missense_Mutation_p.R250W|LPAR1_uc010mub.3_Missense_Mutation_p.R250W	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	250					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R250L(1)|p.D251D(1)|p.D251N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATGGTATCCCGATTCCGCCGG	0.443000														55			33		0	0	0.827153	0	0
ACSM1	116285	broad.mit.edu	37	16	20648709	20648709	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:20648709G>A	uc002dhm.1	-	7	1249	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P394L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	394					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						GTCGTAGGGTGGAGTGGCCTT	0.537000														100			34		0	0	0.859065	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94918016	94918016	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:94918016G>A	uc003unp.3	+	14	3352	c.3070G>A	c.(3070-3072)Gga>Aga	p.G1024R	PPP1R9A_uc010lfj.3_Missense_Mutation_p.G1300R|PPP1R9A_uc011kif.2_Missense_Mutation_p.G1222R|PPP1R9A_uc003unq.3_Intron|PPP1R9A_uc011kig.2_Missense_Mutation_p.G1016R|PPP1R9A_uc003unr.3_Missense_Mutation_p.G313R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	1024	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCAGTTGGATGGAAATAAACT	0.373000										HNSCC(28;0.073)				114			23		0	0	0.639603	0	0
CAPN11	11131	broad.mit.edu	37	6	44144323	44144323	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:44144323G>A	uc003owt.1	+	9	1045	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	CAPN11_uc011dvn.2_5'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	336	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGTGCCAGGGAGTGGGAA	0.617000														68			16		0	0	0.500413	0	0
WSCD2	9671	broad.mit.edu	37	12	108589650	108589650	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:108589650G>A	uc001tms.3	+	1	785	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	WSCD2_uc001tmt.3_Missense_Mutation_p.R14Q	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	14						integral to membrane		p.R14Q(2)|p.R14L(2)|p.R13H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCCGCCGGAAACCTGTG	0.592000														77			42		0	0	0.847076	0	0
MUC16	94025	broad.mit.edu	37	19	8976592	8976592	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:8976592C>T	uc002mkp.3	-	73	42588	c.42384G>A	c.(42382-42384)ctG>ctA	p.L14128L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L928L|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14159	SEA 14.			Missing (in Ref. 3; AAK74120).	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						TGAGGGAGATCAGTTGGCAAC	0.562000														21			8		0	0	0.361761	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64756115	64756115	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:64756115C>T	uc003jtp.3	-	3	1327	c.513G>A	c.(511-513)aaG>aaA	p.K171K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	171					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTGTGGTATTCTTTAAAGGTT	0.323000														73			38		0	0	0.864702	0	0
OR7G1	125962	broad.mit.edu	37	19	9225634	9225634	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9225634C>T	uc021uoi.1	-	0	806	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	OR7G1_uc002mks.1_Missense_Mutation_p.R269Q	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGCAGTAATTCGGGAAGACTC	0.458000														52			23		0	0	0.667858	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8662151	8662151	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:8662151G>A	uc002mkj.1	-	6	1135	c.861C>T	c.(859-861)ctC>ctT	p.L287L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	287	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCGAGTTACGAGGATGTTAA	0.577000														28			16		0	0	0.557998	0	0
LYPD4	147719	broad.mit.edu	37	19	42342324	42342324	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:42342324C>T	uc002orp.1	-	3	1207	c.223G>A	c.(223-225)Gga>Aga	p.G75R	LYPD4_uc002orq.1_Missense_Mutation_p.G40R	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	75						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCCACAACTCCCCTTGCAGTC	0.582000														25			7		0	0	0.278610	0	0
SATB1	6304	broad.mit.edu	37	3	18393630	18393630	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:18393630G>A	uc003cbh.3	-	9	3368	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	SATB1_uc003cbi.3_Silent_p.L545L|SATB1_uc003cbj.3_Silent_p.L545L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	545					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCTCCCACAGGGTTCTGTTT	0.502000														22			16		0	0	0.575678	0	0
RP1L1	94137	broad.mit.edu	37	8	10466059	10466059	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:10466059C>T	uc003wtc.3	-	3	5778	c.5549G>A	c.(5548-5550)gGt>gAt	p.G1850D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1850					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTACACCTTCTGACTC	0.642000														268			6		0	0	0.361761	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873382	26873382	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:26873382T>C	uc001bmr.1	+	2	296	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Missense_Mutation_p.S29P|RPS6KA1_uc001bms.1_Missense_Mutation_p.S54P|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	45					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAAGGAGATCTCCATCACGCA	0.597000														25			15		0	0	0.575678	0	0
IFRD2	7866	broad.mit.edu	37	3	50329957	50329957	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:50329957G>A	uc003czb.3	-	2	301	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	106							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAGCGCGCAGGCGACGGCGG	0.637000														37			11		0	0	0.457914	0	0
KCND1	3750	broad.mit.edu	37	X	48822539	48822539	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:48822539G>A	uc004dlx.1	-	4	3214	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	KCND1_uc004dlw.1_Silent_p.S170S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	547						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTGAGGCAGTGGAGTTGGCAA	0.652000														14			18		0	0	0.539581	0	0
PRSS35	167681	broad.mit.edu	37	6	84234310	84234310	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:84234310G>A	uc003pjz.3	+	1	1390	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	PRSS35_uc010kbm.3_Missense_Mutation_p.D384N|PRSS35_uc021zce.1_Missense_Mutation_p.D384N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	384	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTTCAGAAGGACTACAACGT	0.502000														31			10		0	0	0.387290	0	0
MYLK2	85366	broad.mit.edu	37	20	30412093	30412093	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:30412093G>A	uc002wwq.2	+	5	1012	c.910G>A	c.(910-912)Gag>Aag	p.E304K	MYLK2_uc002wws.2_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	304	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TACCTGCATGGAGAAAGCCAC	0.582000														40			7		0	0	0.335167	0	0
CORO2B	10391	broad.mit.edu	37	15	69011509	69011509	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:69011509C>T	uc002arj.4	+	9	1401	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	CORO2B_uc021spj.1_Silent_p.Y364Y|CORO2B_uc010bic.3_Silent_p.Y364Y|CORO2B_uc002ark.3_Silent_p.Y136Y	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	369					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AAGACATTTACCCAATGACAC	0.592000														203			77		0	0	0.870114	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187651	6187651	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:6187651G>A	uc002mef.1	+	12	1949	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	ACSBG2_uc002mee.1_Silent_p.L387L|ACSBG2_uc002meg.1_Silent_p.L574L|ACSBG2_uc002meh.1_Silent_p.L574L|ACSBG2_uc002mei.1_Silent_p.L524L|ACSBG2_uc010xiz.1_Intron	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	574					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGACAAGCTGAACTTCGAGG	0.592000														38			11		0	0	0.387290	0	0
TTN	7273	broad.mit.edu	37	2	179452036	179452036	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179452036T>A	uc021vsy.1	-	255	56423	c.56198A>T	c.(56197-56199)tAt>tTt	p.Y18733F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y12428F|TTN_uc021vta.1_Missense_Mutation_p.Y12361F|TTN_uc021vtb.1_Missense_Mutation_p.Y12236F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19660	Fibronectin type-III 36.						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)			CTCCACGATATAATGTGTCAC	0.473000														13			13		0	0	0.411799	0	0
SIRT4	23409	broad.mit.edu	37	12	120750760	120750760	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:120750760C>T	uc001tyc.3	+	3	925	c.866C>T	c.(865-867)cCc>cTc	p.P289L		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	289	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACATTGGGCCCACACGGTCG	0.488000														127			45		0	0	0.853193	0	0
TEKT2	27285	broad.mit.edu	37	1	36550626	36550626	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:36550626C>T	uc001bzr.3	+	1	231	c.104C>T	c.(103-105)tCc>tTc	p.S35F	TEKT2_uc001bzs.3_5'UTR	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	35					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGAGATGCTTCCCATCAGATC	0.627000														45			23		0	0	0.639603	0	0
FAM120C	54954	broad.mit.edu	37	X	54159266	54159266	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:54159266C>T	uc004dsz.4	-	8	2004	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	FAM120C_uc011moh.2_Missense_Mutation_p.D641N	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	641										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTACACTCATCCTCAATACAT	0.428000														26			6		0	0	0.361761	0	0
MARCO	8685	broad.mit.edu	37	2	119727901	119727901	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:119727901C>T	uc002tln.1	+	2	543	c.411C>T	c.(409-411)ttC>ttT	p.F137F	MARCO_uc010yyf.1_Silent_p.F59F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	137					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TAGACAACTTCACTCAGAACC	0.587000														9			4		0	0	0.150653	0	0
NAT2	10	broad.mit.edu	37	8	18258245	18258245	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:18258245C>T	uc022asl.1	+	0	732	c.732C>T	c.(730-732)ttC>ttT	p.F244F	NAT2_uc003wyw.1_Silent_p.F244F	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	244					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.F244L(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATAGAAAATTCAATTATAAAG	0.388000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					35			10		0	0	0.387290	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101263	16101263	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16101263G>A	uc001axd.1	+	7	1305	c.862G>A	c.(862-864)Gag>Aag	p.E288K	FBLIM1_uc001axe.1_Missense_Mutation_p.E288K|FBLIM1_uc001axg.1_Missense_Mutation_p.E288K|FBLIM1_uc001axh.1_Missense_Mutation_p.E191K|FBLIM1_uc001axi.1_Missense_Mutation_p.E191K	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	288	LIM zinc-binding 2.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.E288D(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGCCAGAACGAGGTGTACTG	0.632000														135			48		0	0	0.870114	0	0
ACAD10	80724	broad.mit.edu	37	12	112184963	112184963	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:112184963C>T	uc009zvx.3	+	15	2660	c.2460C>T	c.(2458-2460)cgC>cgT	p.R820R	ACAD10_uc001tsp.3_Silent_p.R789R|ACAD10_uc001tsq.3_Silent_p.R789R|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.	789							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						GGAAAGCCCGCTCCTGTTTTG	0.642000														22			23		0	0	0.639603	0	0
CXorf40B	541578	broad.mit.edu	37	X	149100861	149100861	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:149100861G>A	uc004fdy.3	-	4	894	c.378C>T	c.(376-378)aaC>aaT	p.N126N	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	Homo sapiens chromosome X open reading frame 40B (CXorf40B), mRNA.	126										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACCACCTGGGGTTTGAAATCA	0.502000														133			42		0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141800675	141800675	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:141800675G>A	uc003vwy.3	+	44	5314	c.5260G>A	c.(5260-5262)Gat>Aat	p.D1754N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1754	Glucoamylase.				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)	CTTCTGGGATGATGGGCAAAG	0.502000														36			8		0	0	0.307466	0	0
SAMD9	54809	broad.mit.edu	37	7	92730924	92730924	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:92730924C>T	uc003umf.3	-	2	4757	c.4487G>A	c.(4486-4488)gGa>gAa	p.G1496E	SAMD9_uc003umg.3_Missense_Mutation_p.G1496E|SAMD9_uc022ahg.1_Missense_Mutation_p.G1496E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1496						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCAATTTTTCCTTTGTGAAC	0.378000														41			51		0	0	0.870114	0	0
CD86	942	broad.mit.edu	37	3	121828152	121828152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:121828152G>A	uc003eet.3	+	4	872	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CD86_uc011bjo.2_Nonsense_Mutation_p.W166*|CD86_uc011bjp.2_Nonsense_Mutation_p.W136*|CD86_uc003eeu.3_Nonsense_Mutation_p.W242*|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	248					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACATTCCTTGGATTACAGCTG	0.413000														56			27		0	0	0.706142	0	0
DDX50	79009	broad.mit.edu	37	10	70695789	70695789	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:70695789C>T	uc001jou.3	+	10	1656	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S		NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	517	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGTAGGTGTTCCTTCTACAAT	0.289000														23			19		0	0	0.608945	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518063	84518063	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:84518063G>A	uc010ffz.1	+	0	258	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		ACTCTCAGCCGAAAAGTATAG	0.498000														76			13		0	0	0.435327	0	0
MMP28	79148	broad.mit.edu	37	17	34093640	34093640	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:34093640C>T	uc002hjy.1	-	8	1698	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	481	Hemopexin-like 4.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGGTCATCTCGGAAGAAGAT	0.672000														10			14		0	0	0.575678	0	0
NELL2	4753	broad.mit.edu	37	12	45059292	45059292	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:45059292G>A	uc010skz.1	-	13	1694	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	NELL2_uc001rof.3_Silent_p.I472I|NELL2_uc001rog.2_Silent_p.I473I|NELL2_uc001roh.2_Silent_p.I473I|NELL2_uc009zkd.2_Silent_p.I472I|NELL2_uc010sla.1_Silent_p.I496I|NELL2_uc001roi.1_Silent_p.I473I|NELL2_uc010slb.1_Silent_p.I472I|NELL2_uc001roj.2_Silent_p.I473I	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	473	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATCAATTCTGATGTATCCAG	0.353000														34			19		0	0	0.557998	0	0
NBEA	26960	broad.mit.edu	37	13	35619464	35619464	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:35619464T>G	uc021rid.1	+	3	1183	c.649T>G	c.(649-651)Tta>Gta	p.L217V	NBEA_uc021ric.1_Missense_Mutation_p.L217V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	217						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)		AGTAAAATTATTATCAGTTCT	0.358000														18			8		0	0	0.278610	0	0
ZNF208	7757	broad.mit.edu	37	19	22155020	22155020	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22155020T>G	uc021urr.1	-	3	2965	c.2816A>C	c.(2815-2817)cAt>cCt	p.H939P	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTCCAGCATGAGTTTTCTT	0.373000														22			15		0	0	0.520397	0	0
OR51A7	119687	broad.mit.edu	37	11	4928619	4928619	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4928619C>T	uc010qyq.2	+	0	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCAATAACTCCGAAGTCAAG	0.438000														36			6		0	0	0.307466	0	0
PDE11A	50940	broad.mit.edu	37	2	178705018	178705018	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:178705018T>C	uc002ulq.3	-	5	1778	c.1460A>G	c.(1459-1461)aAc>aGc	p.N487S	PDE11A_uc002ulp.3_Missense_Mutation_p.N43S|PDE11A_uc002ulr.3_Missense_Mutation_p.N237S|PDE11A_uc002uls.1_Missense_Mutation_p.N129S|PDE11A_uc002ult.1_Missense_Mutation_p.N237S|PDE11A_uc002ulu.1_Missense_Mutation_p.N129S	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	487	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATCACTGATGTTCACTGGAAG	0.458000									Primary Pigmented Nodular Adrenocortical Disease, Familial					38			36		0	0	0.827153	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313390	99313390	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:99313390G>A	uc003uru.3	-	6	764	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	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.	221					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)					CTTATTGAGAGAACGAATGGA	0.358000														149			31		0	0	0.769981	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602625	64602625	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64602625G>A	uc001obs.4	-	17	1954	c.1954_splice	c.e17-1	p.L652_splice		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	652					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						TCTGCTTCTAGCTGGGGCCGG	0.687000														20			10		0	0	0.411799	0	0
IL11	3589	broad.mit.edu	37	19	55877462	55877462	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:55877462G>A	uc002qks.1	-	4	649	c.513C>T	c.(511-513)atC>atT	p.I171I	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Silent_p.I92I	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	171					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	GGGCGGCCCTGATGCCCCCCC	0.741000														9			3		0	0	0.115264	0	0
LYNX1	66004	broad.mit.edu	37	8	143856634	143856634	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:143856634G>A	uc003yxc.1	-	3	572	c.302C>T	c.(301-303)aCc>aTc	p.T101I	LYNX1_uc003yxb.3_Intron|LYNX1_uc003yxd.1_Missense_Mutation_p.T101I|LYNX1_uc003yxe.1_Missense_Mutation_p.T101I	NM_177476	NP_803430	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 4, mRNA.	12						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGGCCAGGGTGGCCGGGGT	0.632000														23			9		0	0	0.335167	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147031	55147031	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:55147031C>T	uc003pcl.3	+	6	1429	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	372					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGAAAATTTCGAGAGGAATT	0.453000														14			12		0	0	0.411799	0	0
KLF1	10661	broad.mit.edu	37	19	12995729	12995729	+	Silent	SNP	G	A	A	rs144695155		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:12995729G>A	uc002mvo.3	-	2	1122	c.1059C>T	c.(1057-1059)caC>caT	p.H353H		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	353					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGCCAGGTGGTCAGAGC	0.632000														57			22		0	0	0.667858	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128305419	128305419	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:128305419G>A	uc004bpv.3	-	6	1210	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	MAPKAP1_uc011lzt.2_Nonsense_Mutation_p.Q96*|MAPKAP1_uc010mwz.3_Non-coding_Transcript|MAPKAP1_uc011lzu.2_Nonsense_Mutation_p.Q101*|MAPKAP1_uc011lzv.2_Nonsense_Mutation_p.Q37*|MAPKAP1_uc004bpw.3_Nonsense_Mutation_p.Q101*|MAPKAP1_uc004bpx.3_Nonsense_Mutation_p.Q101*|MAPKAP1_uc004bpy.3_Nonsense_Mutation_p.Q293*|MAPKAP1_uc004bpz.3_Nonsense_Mutation_p.Q293*|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc010mxb.1_Nonsense_Mutation_p.Q96*|MAPKAP1_uc004bqa.3_Nonsense_Mutation_p.Q293*	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	293					T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TTGTCCACCTGAATAAGGGAG	0.393000														95			42		0	0	0.870114	0	0
EFHC2	80258	broad.mit.edu	37	X	44037711	44037711	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:44037711C>T	uc004dgb.4	-	11	1940	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	EFHC2_uc022bvg.1_Missense_Mutation_p.M195I	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	617							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAGAAATCCATATCTGAAC	0.398000														12			10		0	0	0.361761	0	0
LDLR	3949	broad.mit.edu	37	19	11224428	11224428	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:11224428C>T	uc002mqk.4	+	9	1763	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	LDLR_uc010xlk.2_Missense_Mutation_p.P526S|LDLR_uc010xll.2_Missense_Mutation_p.P485S|LDLR_uc021upc.1_Missense_Mutation_p.P405S|LDLR_uc010xln.2_Missense_Mutation_p.P399S|LDLR_uc010xlo.2_Missense_Mutation_p.P358S|LDLR_uc010xlm.2_Missense_Mutation_p.P379S|LDLR_uc021upd.1_Missense_Mutation_p.P263S	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	526			P -> S (in Cincinnati-3).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.P526S(2)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGTGGTGGATCCTGTTCATGG	0.582000														40			23		0	0	0.681144	0	0
KCNK10	54207	broad.mit.edu	37	14	88652128	88652128	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:88652128C>T	uc001xwm.3	-	6	1505	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	KCNK10_uc001xwn.3_Silent_p.R461R|KCNK10_uc001xwo.3_Silent_p.R456R	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	456					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTGTTTTTCCTCTTGGTGA	0.537000														86			35		0	0	0.834066	0	0
C6	729	broad.mit.edu	37	5	41160461	41160461	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41160461G>A	uc003jmk.2	-	10	1677	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P	C6_uc003jml.1_Silent_p.P489P	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	489	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.A488A(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTCCACGATGGGGGCAAGCT	0.498000														49			28		0	0	0.750413	0	0
NLGN2	57555	broad.mit.edu	37	17	7318850	7318850	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:7318850C>T	uc002ggt.1	+	5	1131	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	353					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCCTTTGGGCCCGTGGTGGAT	0.612000														36			22		0	0	0.639603	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418190	48418190	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:48418190C>T	uc011mmb.1	+	5	992	c.906C>T	c.(904-906)gcC>gcT	p.A302A	TBC1D25_uc004dka.1_Silent_p.A298A|TBC1D25_uc011mly.1_Silent_p.A240A|TBC1D25_uc004dkb.1_Silent_p.A44A|TBC1D25_uc011mlz.1_Silent_p.A44A|TBC1D25_uc011mma.1_Silent_p.A44A|TBC1D25_uc004dkc.1_Silent_p.A44A|TBC1D25_uc011mmd.1_Silent_p.A44A|TBC1D25_uc011mmc.1_Silent_p.A44A	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	298	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGACCGGGCCCACCCCTACT	0.632000														40			9		0	0	0.335167	0	0
RBP5	83758	broad.mit.edu	37	12	7277224	7277224	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:7277224C>T	uc001qsq.3	-	3	449	c.354_splice	c.e3+1	p.L118_splice		NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	118						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	ACCCCATTTACCAGATACAGC	0.602000														135			67		0	0	0.870114	0	0
C20orf151	140893	broad.mit.edu	37	20	60992363	60992363	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:60992363C>T	uc002ycw.2	-	3	314	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	39										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GCTCCTCGATCCTCTGGGCGT	0.622000														5			4		0	0	0.184627	0	0
SHROOM2	357	broad.mit.edu	37	X	9862847	9862847	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:9862847C>T	uc004csu.1	+	3	989	c.899C>T	c.(898-900)cCa>cTa	p.P300L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	300					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AATTTTGGGCCAGTCTGGTAT	0.622000														39			12		0	0	0.457914	0	0
EP400NL	347918	broad.mit.edu	37	12	132593196	132593196	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:132593196C>T	uc001ujv.3	+	1	1388	c.1364C>T	c.(1363-1365)gCg>gTg	p.A455V	EP400NL_uc001ujs.4_Missense_Mutation_p.A386V|EP400NL_uc009zyq.3_Missense_Mutation_p.A323V|EP400NL_uc001ujt.3_Missense_Mutation_p.A323V|EP400NL_uc001ujw.1_Missense_Mutation_p.A154V					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AGGACTTCTGCGGCTTTTCCA	0.572000														2			4		0	0	0.184627	0	0
WLS	79971	broad.mit.edu	37	1	68615937	68615937	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:68615937G>A	uc001dee.3	-	5	1202	c.900C>T	c.(898-900)atC>atT	p.I300I	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.I302I|WLS_uc001deg.2_Silent_p.I211I|WLS_uc009wbf.1_Silent_p.I257I	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	302					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGCCCTGTCGGATGTCACCAA	0.512000														134			69		0	0	0.870114	0	0
ZNF267	10308	broad.mit.edu	37	16	31926241	31926242	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:31926241_31926242CC>TT	uc002ecs.4	+	3	880_881	c.671_672CC>TT	c.(670-672)acc>aTT	p.T224I		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	224					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCTGAAAAAACCTTGAACCAAA	0.302000														14			4		0	0	0.115264	0	0
ARAP2	116984	broad.mit.edu	37	4	36162133	36162133	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:36162133C>T	uc003gsq.2	-	12	2728	c.2390G>A	c.(2389-2391)gGa>gAa	p.G797E	ARAP2_uc003gsr.1_Missense_Mutation_p.G797E	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	797	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTGAATTTTCCTTCTTTATA	0.299000														9			4		0	0	0.217242	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784098	156784099	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156784098_156784099GG>AA	uc009wsh.2	-	3	466_467	c.326_327CC>TT	c.(325-327)tcc>tTT	p.S109F	SH2D2A_uc001fqc.1_Intron|SH2D2A_uc001fqd.2_Intron|SH2D2A_uc001fqe.2_Intron|SH2D2A_uc010phs.1_Intron|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	103	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTGGGTGACGGAGAGAGGGGG	0.649000														16			7		0	0	0.115264	0	0
GPR137	56834	broad.mit.edu	37	11	64056654	64056655	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64056654_64056655AC>CT	uc010rni.2	+	8	1273_1274	c.1245_1246AC>CT	c.(1243-1248)ccaccc>ccCTcc	p.P416S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.T343L|GPR137_uc001nzi.3_Missense_Mutation_p.T393L|GPR137_uc021qkt.1_Missense_Mutation_p.P358S|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	358						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCTCTACTCCACCCCACAGACG	0.653000														77			37		0	0	0.115264	0	0
SUSD2	56241	broad.mit.edu	37	22	24583635	24583635	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:24583635C>T	uc002zzn.1	+	11	2032	c.1988C>T	c.(1987-1989)cCc>cTc	p.P663L		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	663	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCTTCGAGCCCCTCTTCCCC	0.582000														82			34		0	0	0.812448	0	0
PDE6B	5158	broad.mit.edu	37	4	619608	619608	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:619608G>A	uc003gap.3	+	0	246	c.193G>A	c.(193-195)Gat>Aat	p.D65N	PDE6B_uc003gao.4_Missense_Mutation_p.D65N	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	65					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCTGGTGCAGGATATGCAGGA	0.682000														26			14		0	0	0.457914	0	0
VAT1L	57687	broad.mit.edu	37	16	77850940	77850940	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:77850940G>A	uc002ffg.1	+	1	453	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	119							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGCGTGAAAGGATATGAGGTA	0.428000														138			49		0	0	0.870114	0	0
MCF2	4168	broad.mit.edu	37	X	138697067	138697067	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:138697067C>A	uc011mwn.1	-	12	1777	c.1771G>T	c.(1771-1773)Ggg>Tgg	p.G591W	MCF2_uc004fav.3_Missense_Mutation_p.G446W|MCF2_uc004fau.3_Missense_Mutation_p.G446W|MCF2_uc010nsh.2_Missense_Mutation_p.G446W|MCF2_uc011mwm.2_Missense_Mutation_p.G407W|MCF2_uc011mwl.2_Missense_Mutation_p.G407W|MCF2_uc011mwo.1_Missense_Mutation_p.G506W|MCF2_uc004faw.2_Missense_Mutation_p.G506W	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	446	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATGGTGTCCCAGATGTGACC	0.373000														125			77		7.49063e-41	7.6606e-41	0.870114	1	0
GREM1	26585	broad.mit.edu	37	15	33022961	33022961	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:33022961G>A	uc001zhe.2	+	1	229	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	GREM1_uc010uby.2_Missense_Mutation_p.G24R|GREM1_uc001zhd.2_Intron|GREM1_uc021sio.1_Missense_Mutation_p.G24R	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	24					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GGCTGCTGAAGGGAAAAAGAA	0.602000														44			33		0	0	0.788014	0	0
ZBED4	9889	broad.mit.edu	37	22	50277355	50277355	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:50277355C>T	uc003bix.2	+	1	515	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ZBED4_uc021wrx.1_Silent_p.F15F	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	15						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGGTGATTTCGTTTCTGATA	0.383000														31			15		0	0	0.479597	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389146	119389146	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:119389146C>T	uc022cdm.1	+	0	1876	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ZBTB33_uc010nqm.1_Missense_Mutation_p.P626S|ZBTB33_uc004esn.1_Missense_Mutation_p.P626S	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	626	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAAGAACCTCCAGTAGGGAC	0.368000														90			29		0	0	0.750413	0	0
SYCE2	256126	broad.mit.edu	37	19	13011310	13011310	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:13011310C>T	uc002mvr.2	-	3	474	c.459G>A	c.(457-459)gtG>gtA	p.V153V		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	Homo sapiens synaptonemal complex central element protein 2 (SYCE2), mRNA.	153					cell division	central element		p.V153M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACACAGTCTCCACGCTGTGGC	0.527000														48			21		0	0	0.608945	0	0
MUC16	94025	broad.mit.edu	37	19	9070835	9070835	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9070835G>A	uc002mkp.3	-	2	16815	c.16611C>T	c.(16609-16611)ccC>ccT	p.P5537P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5539	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5537R(1)		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						GTGCTATTGTGGGCCGATCAA	0.483000														73			39		0	0	0.840704	0	0
ZNF616	90317	broad.mit.edu	37	19	52627300	52627300	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:52627300C>T	uc002pym.3	-	2	298	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q4Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATGTCAAATGCCCCTGAAATG	0.403000														75			44		0	0	0.870114	0	0
PCDH20	64881	broad.mit.edu	37	13	61986305	61986305	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:61986305C>T	uc001vid.4	-	1	2291	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	PCDH20_uc010thj.2_Missense_Mutation_p.D643N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	616	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G642*(1)|p.R643L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGCTGAAGTCCTTGTTGATA	0.478000														55			13		0	0	0.435327	0	0
ADARB2	105	broad.mit.edu	37	10	1262994	1262994	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:1262994C>T	uc009xhq.3	-	6	1905	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	527	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)		ACCGTCCCTTCCCCGGACTCG	0.647000														7			4		0	0	0.150653	0	0
RELN	5649	broad.mit.edu	37	7	103629660	103629660	+	Silent	SNP	C	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:103629660C>G	uc022ajr.1	-	0	304	c.144G>C	c.(142-144)ggG>ggC	p.G48G	RELN_uc022ajq.1_Silent_p.G48G|RELN_uc010liz.3_Silent_p.G48G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	48	Reelin.				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)		GCTCCCCATCCCCTTCCAGCT	0.627000														93			22		0	0	0.667858	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109850	95109850	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:95109850G>A	uc001ydt.3	+	2	887	c.799G>A	c.(799-801)Gag>Aag	p.E267K						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CAGCCCAAAGGAGTTCTTTGT	0.582000														26			12		0	0	0.457914	0	0
CPS1	1373	broad.mit.edu	37	2	211542633	211542633	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:211542633C>T	uc010fur.3	+	38	4527	c.4445C>T	c.(4444-4446)gCt>gTt	p.A1482V	CPS1_uc002vee.4_Missense_Mutation_p.A1476V|CPS1_uc010fus.3_Missense_Mutation_p.A1025V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1476					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.R1481R(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)		TTTGCTGAAGCTGTGCAGAAA	0.428000														136			157		0	0	0.870114	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896384	205896384	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:205896384C>T	uc001hdp.3	-	10	1362	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	SLC26A9_uc001hdo.3_Missense_Mutation_p.M84I|SLC26A9_uc001hdq.3_Missense_Mutation_p.M416I	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	416						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCATGGTGATCATCACCACCA	0.483000														104			32		0	0	0.796494	0	0
LINC00303	284573	broad.mit.edu	37	1	204009438	204009438	+	RNA	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:204009438G>A	uc001haj.2	-	1		c.258C>T			LINC00303_uc001hak.2_Non-coding_Transcript|LINC00303_uc010pqo.1_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 303 (LINC00303), non-coding RNA.																		TGTGTATGGAGACTGTAGGGG	0.453000														13			6		0	0	0.307466	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965151	42965151	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:42965151G>A	uc003gwt.3	+	2	628	c.627_splice	c.e2+1	p.G209_splice		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	209	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATTACCTTGGGGTAAGTAAGC	0.448000														244			121		0	0	0.870114	0	0
ACTL9	284382	broad.mit.edu	37	19	8808404	8808404	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:8808404G>A	uc002mkl.2	-	0	769	c.648C>T	c.(646-648)caC>caT	p.H216H		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	216						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCGTGGCGTGGAGCAGGT	0.682000														47			15		0	0	0.520397	0	0
TRIM27	5987	broad.mit.edu	37	6	28887948	28887948	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:28887948A>T	uc003nlr.3	-	2	947	c.588T>A	c.(586-588)caT>caA	p.H196Q	TRIM27_uc003nls.3_Missense_Mutation_p.H196Q|TRIM27_uc003nlt.1_Missense_Mutation_p.H196Q	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	196					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCGATACTCATGCTCCTTTA	0.507000			T	RET	papillary thyroid									132			76		0	0	0.870114	0	0
DOPEY2	9980	broad.mit.edu	37	21	37620844	37620844	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:37620844C>T	uc002yvg.3	+	20	5055	c.4976C>T	c.(4975-4977)tCc>tTc	p.S1659F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1608F|DOPEY2_uc002yvh.3_Missense_Mutation_p.S510F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1659					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGATCCTCTTCCGTTTACTTT	0.433000														21			10		0	0	0.411799	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129019833	129019833	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:129019833G>A	uc003kvb.1	+	17	2667	c.2667G>A	c.(2665-2667)caG>caA	p.Q889Q	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	889	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q889H(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCAGGATCAGAATTATGGTC	0.408000														86			30		0	0	0.812448	0	0
FPR1	2357	broad.mit.edu	37	19	52250258	52250258	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:52250258C>T	uc021uyn.1	-	3	136	c.-10_splice	c.e3-1		FPR1_uc002pxq.3_Splice_Site|FPR1_uc021uyo.1_5'Flank	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.						G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTTGTCTGCTCCTGAAATAGT	0.498000														11			6		0	0	0.217242	0	0
ZNF727	442319	broad.mit.edu	37	7	63538091	63538091	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:63538091C>T	uc011kdm.2	+	3	843	c.664C>T	c.(664-666)Cat>Tat	p.H222Y		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAATAGAGTTCATACTGGAAA	0.373000														16			5		0	0	0.217242	0	0
NEK4	6787	broad.mit.edu	37	3	52794947	52794947	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:52794947G>A	uc003dfq.4	-	5	1030	c.827C>T	c.(826-828)aCc>aTc	p.T276I	NEK4_uc011bej.2_Missense_Mutation_p.T187I|NEK4_uc003dfr.3_Missense_Mutation_p.T276I	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	276					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ATTTTTGGAGGTTTTTCTTTA	0.343000														57			16		0	0	0.575678	0	0
ZP4	57829	broad.mit.edu	37	1	238048799	238048799	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:238048799G>A	uc001hym.3	-	7	1339	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	351	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGAAGGATGGAGACCTCCAC	0.532000														44			14		0	0	0.520397	0	0
TPR	7175	broad.mit.edu	37	1	186302359	186302359	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:186302359G>A	uc001grv.3	-	36	5647	c.5350C>T	c.(5350-5352)Cct>Tct	p.P1784S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1784					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCAATCTGAGGATGACTCTGT	0.438000			T	NTRK1	papillary thyroid									99			32		0	0	0.804634	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149136	103149136	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:103149136C>T	uc002tbz.4	+	11	2843	c.2386C>T	c.(2386-2388)Caa>Taa	p.Q796*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTTTGCTCCAAAAAAAATA	0.473000														22			5		0	0	0.411799	0	0
ASH1L	55870	broad.mit.edu	37	1	155348153	155348153	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:155348153G>A	uc009wqq.3	-	9	6746	c.6266C>T	c.(6265-6267)tCt>tTt	p.S2089F	ASH1L_uc001fkt.3_Missense_Mutation_p.S2084F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2089					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGTAACCAGAAAGGGGTTT	0.408000														120			44		0	0	0.870114	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119293197	119293197	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:119293197C>T	uc004esl.4	+	1	546	c.356C>T	c.(355-357)tCg>tTg	p.S119L		NM_001099685	NP_115887	P0C7M4	RHF2B_HUMAN	Homo sapiens Rhox homeobox family, member 2B (RHOXF2B), mRNA.	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CAGCAGTATTCGCGCCCACAG	0.667000														16			3		0	0	0.115264	0	0
SF3A3	10946	broad.mit.edu	37	1	38433717	38433717	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:38433717G>A	uc001cci.3	-	15	1496	c.1372_splice	c.e15+1	p.L458_splice	SF3A3_uc010oik.2_Splice_Site_p.L405_splice	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	458					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTACTTACAGGAGACAGCAT	0.453000														199			83		0	0	0.870114	0	0
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:113439559C>T	uc001vsj.4	+	1	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_uc001vsi.4_Silent_p.I50I|ATP11A_uc001vsm.1_5'UTR	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	50					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				ACAACAGGATCGTCTCGTCCA	0.552000														70			28		0	0	0.788014	0	0
KITLG	4254	broad.mit.edu	37	12	88926227	88926227	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:88926227C>T	uc001tav.3	-	2	378	c.183G>A	c.(181-183)atG>atA	p.M61I	KITLG_uc001taw.3_Missense_Mutation_p.M61I|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	61					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCAAAACATCCATCCCGGGGA	0.333000									Testicular Cancer, Familial Clustering of					113			42		0	0	0.870114	0	0
CASR	846	broad.mit.edu	37	3	122003352	122003352	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:122003352T>G	uc003eew.4	+	6	3019	c.2581T>G	c.(2581-2583)Tgc>Ggc	p.C861G	CASR_uc003eev.4_Missense_Mutation_p.C851G	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	851					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTGCTGGCGTGCATCTTCTT	0.542000														35			19		0	0	0.608945	0	0
TTN	7273	broad.mit.edu	37	2	179436952	179436952	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179436952G>A	uc021vsy.1	-	274	66428	c.66203C>T	c.(66202-66204)tCt>tTt	p.S22068F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15763F|TTN_uc021vta.1_Missense_Mutation_p.S15696F|TTN_uc021vtb.1_Missense_Mutation_p.S15571F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22995	Ig-like 115.						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)			TTTCTCCCAAGAGAGTGACAC	0.488000														19			23		0	0	0.717897	0	0
BHMT	635	broad.mit.edu	37	5	78422036	78422036	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:78422036C>T	uc003kfu.4	+	5	898	c.793C>T	c.(793-795)Cca>Tca	p.P265S	BHMT_uc011cti.2_Missense_Mutation_p.P112S	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	265	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATCGATCTCCCAGAATTCCC	0.443000														41			10		0	0	0.411799	0	0
KCNA2	3737	broad.mit.edu	37	1	111146446	111146446	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:111146446G>A	uc021oro.1	-	0	959	c.959C>T	c.(958-960)aCc>aTc	p.T320I	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.T320I	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	320						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGCTTTGAGGGTCTGACCTAG	0.483000														48			16		0	0	0.520397	0	0
OR51F1	256892	broad.mit.edu	37	11	4790656	4790656	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4790656G>A	uc010qyl.2	-	0	492	c.492C>T	c.(490-492)ctC>ctT	p.L164L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	164						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGGCTTAAGGAGCAAAAGTA	0.388000														72			17		0	0	0.557998	0	0
MYO1C	4641	broad.mit.edu	37	17	1384096	1384096	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:1384096G>A	uc002fsp.3	-	5	931	c.711C>T	c.(709-711)ttC>ttT	p.F237F	MYO1C_uc002fsn.3_Silent_p.F218F|MYO1C_uc002fso.3_Silent_p.F202F|MYO1C_uc010vqj.1_Silent_p.F202F|MYO1C_uc010vqk.1_Silent_p.F213F	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	237	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity	p.Q236fs*17(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAAGATGTGGAAGTTCCGCT	0.612000														51			67		0	0	0.870114	0	0
REV1	51455	broad.mit.edu	37	2	100065964	100065964	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:100065964G>A	uc002tad.3	-	3	396	c.184C>T	c.(184-186)Cct>Tct	p.P62S	REV1_uc002tac.3_Missense_Mutation_p.P62S|REV1_uc002tae.1_Missense_Mutation_p.P41S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	62	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCGGAAGGATCTGCaaaa	0.303000								Direct reversal of damage						22			26		0	0	0.693898	0	0
ANO4	121601	broad.mit.edu	37	12	101493479	101493479	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:101493479C>T	uc010svm.1	+	21	2702	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	ANO4_uc001thw.2_Silent_p.F675F|ANO4_uc001thx.2_Silent_p.F710F|ANO4_uc001thy.2_Silent_p.F230F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	710						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGGACTCTTCGATGAATACT	0.333000										HNSCC(74;0.22)				46			30		0	0	0.827153	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854997	79854997	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:79854997G>A	uc010jam.3	-	3	1192	c.842C>T	c.(841-843)aCc>aTc	p.T281I	ANKRD34B_uc003kgw.3_Missense_Mutation_p.T281I|ANKRD34B_uc010jan.3_Missense_Mutation_p.T281I|ANKRD34B_uc021yax.1_Missense_Mutation_p.T281I	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	281						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAGCCCATTGGTTTTATAGGA	0.463000														55			28		0	0	0.750413	0	0
TAB3	257397	broad.mit.edu	37	X	30870900	30870900	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:30870900G>A	uc004dcj.3	-	6	2368	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	TAB3_uc004dck.3_Missense_Mutation_p.P569S|TAB3_uc010ngl.3_Missense_Mutation_p.P569S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	569					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CTTACCGTAGGGATCGCAGTG	0.473000														65			11		0	0	0.500413	0	0
OR1S2	219958	broad.mit.edu	37	11	57971480	57971480	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:57971480G>A	uc010rkb.2	-	0	174	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TAGCCACAATGATGAGCCCGT	0.468000														90			18		0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179439831	179439831	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179439831C>T	uc021vsy.1	-	274	63549	c.63324G>A	c.(63322-63324)caG>caA	p.Q21108Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Q14803Q|TTN_uc021vta.1_Silent_p.Q14736Q|TTN_uc021vtb.1_Silent_p.Q14611Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22035	Fibronectin type-III 53.						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)			CTCTCTGTGTCTGTTTAAGAA	0.418000														9			11		0	0	0.387290	0	0
PIWIL4	143689	broad.mit.edu	37	11	94334973	94334973	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:94334973T>A	uc001pfa.3	+	11	1604	c.1393T>A	c.(1393-1395)Tct>Act	p.S465T	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	465					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAACCTGTGTCTGCTGCTGA	0.368000														144			32		0	0	0.827153	0	0
FAM5C	339479	broad.mit.edu	37	1	190067932	190067932	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:190067932C>A	uc001gse.1	-	7	1749	c.1517G>T	c.(1516-1518)aGa>aTa	p.R506I	FAM5C_uc010pot.1_Missense_Mutation_p.R404I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	506						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCTATTCGTCTGTCCGTTTT	0.488000														89			37		5.59293e-11	5.66475e-11	0.827153	1	0
PCNXL2	80003	broad.mit.edu	37	1	233296119	233296119	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:233296119C>T	uc001hvl.2	-	18	3662	c.3427G>A	c.(3427-3429)Gtg>Atg	p.V1143M	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1143						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAGGGAGCACGTAATGTGTT	0.468000														44			24		0	0	0.681144	0	0
CACNA1E	777	broad.mit.edu	37	1	181762921	181762921	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:181762921G>A	uc009wxt.3	+	44	6214	c.6019G>A	c.(6019-6021)Gat>Aat	p.D2007N	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2007					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2007C(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGACTGTGGATCCCCAGGT	0.507000														24			11		0	0	0.457914	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685886	125685886	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:125685886C>T	uc022cds.1	-	0	706	c.706G>A	c.(706-708)Gag>Aag	p.E236K	DCAF12L1_uc004eul.3_Missense_Mutation_p.E236K	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	236								p.E236*(2)|p.S235C(1)		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						AGACCCACCTCGCTATGCCAG	0.652000														28			23		0	0	0.667858	0	0
STOML3	161003	broad.mit.edu	37	13	39542571	39542571	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:39542571G>A	uc001uwx.3	-	5	755	c.617C>T	c.(616-618)gCc>gTc	p.A206V	STOML3_uc010tez.2_Missense_Mutation_p.A197V	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	206						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CTCAGCCTCGGCTGCCATGGA	0.562000														114			58		0	0	0.870114	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600573	1600573	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:1600573G>A	uc010gai.3	-	0	117	c.18C>T	c.(16-18)tcC>tcT	p.S6S	SIRPB1_uc002wfk.4_Silent_p.S6S|SIRPB1_uc002wfl.4_Silent_p.S6S	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	6					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGGGCCAGGAGGCTGGCA	0.562000														57			27		0	0	0.750413	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122313	46122313	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:46122313C>A	uc001jcp.4	-	6	1200	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.D320Y|ZFAND4_uc009xmu.3_Missense_Mutation_p.D246Y|ZFAND4_uc001jcn.4_Missense_Mutation_p.D246Y|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	320							zinc ion binding										CAGCTATTATCTTCCTTAAGA	0.433000														28			30		5.45727e-16	5.54515e-16	0.729181	1	0
AGBL1	123624	broad.mit.edu	37	15	86940619	86940619	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:86940619C>T	uc002blz.1	+	16	2339	c.2259C>T	c.(2257-2259)atC>atT	p.I753I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	753					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCAGGTGATCACTGCTCGAG	0.428000														28			29		0	0	0.750413	0	0
COL11A1	1301	broad.mit.edu	37	1	103388915	103388915	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:103388915C>T	uc001dum.3	-	46	3985	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	COL11A1_uc001duk.3_Missense_Mutation_p.E407K|COL11A1_uc001dul.3_Missense_Mutation_p.E1211K|COL11A1_uc001dun.3_Missense_Mutation_p.E1172K|COL11A1_uc009weh.3_Missense_Mutation_p.E1095K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1211	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCCATTTTCACCTTTTTCA	0.343000														25			4		0	0	0.184627	0	0
TACC2	10579	broad.mit.edu	37	10	123843501	123843501	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:123843501G>A	uc001lfv.3	+	3	1846	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E496K|TACC2_uc010qtv.2_Missense_Mutation_p.E496K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	496	Pro-rich.					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)				ATCACCCCAGGAGAGGGGAGA	0.597000														57			48		0	0	0.870114	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800612	74800612	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:74800612C>T	uc010rro.2	-	0	147	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	49					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						CCACCAGGATCAGGGCATTAC	0.507000														62			13		0	0	0.500413	0	0
FSD1	79187	broad.mit.edu	37	19	4317241	4317241	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:4317241G>A	uc002lzy.2	+	7	916	c.763G>A	c.(763-765)Gga>Aga	p.G255R	FSD1_uc002maa.2_Missense_Mutation_p.G68R	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	255	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGTTGCAGGAGAGTTCTC	0.517000														70			23		0	0	0.667858	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600036	81600036	+	Missense_Mutation	SNP	C	T	T	rs79127167		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:81600036C>T	uc003uhr.1	-	26	2415	c.2159G>A	c.(2158-2160)cGa>cAa	p.R720Q	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	732						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACAACAAATCGTGCTTTCAC	0.363000														153			37		0	0	0.870114	0	0
ZNF185	7739	broad.mit.edu	37	X	152106682	152106682	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:152106682G>A	uc011myg.2	+	15	1327	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	ZNF185_uc011myi.2_Missense_Mutation_p.E366K|ZNF185_uc011myj.2_Missense_Mutation_p.E336K|ZNF185_uc011myh.2_Missense_Mutation_p.E398K|ZNF185_uc011myk.2_Missense_Mutation_p.E396K|ZNF185_uc010ntv.2_Missense_Mutation_p.E395K|ZNF185_uc004fgw.4_Missense_Mutation_p.E174K|ZNF185_uc004fgu.3_Missense_Mutation_p.E24K|ZNF185_uc004fgv.3_Missense_Mutation_p.E92K	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	395						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGCCCAGGAGGATGCAAA	0.562000														6			4		0	0	0.217242	0	0
MRPS34	65993	broad.mit.edu	37	16	1822442	1822442	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:1822442T>A	uc002cmo.3	-	2	457	c.437A>T	c.(436-438)gAg>gTg	p.E146V	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|MRPS34_uc021taj.1_Missense_Mutation_p.E153V|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.	146						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GGCCTCCTCCTCGTGCTTGGG	0.627000														114			36		0	0	0.827153	0	0
RBM27	54439	broad.mit.edu	37	5	145638042	145638042	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:145638042C>T	uc003lnz.4	+	10	1791	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	RBM27_uc003lny.2_Missense_Mutation_p.P487L	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	542					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGAACCACCAGTTCCTGTT	0.358000														63			24		0	0	0.760397	0	0
NAV3	89795	broad.mit.edu	37	12	78513686	78513686	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:78513686G>A	uc001syp.3	+	14	3883	c.3710G>A	c.(3709-3711)gGa>gAa	p.G1237E	NAV3_uc001syo.3_Missense_Mutation_p.G1237E|NAV3_uc010sub.2_Missense_Mutation_p.G737E|NAV3_uc009zsf.3_Missense_Mutation_p.G245E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1237	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGCAGCCAGGATCCAAGTAT	0.453000										HNSCC(70;0.22)				64			21		0	0	0.693898	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611327	17611327	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:17611327C>A	uc002ngu.1	+	8	1407	c.1357C>A	c.(1357-1359)Cag>Aag	p.Q453K	SLC27A1_uc010xpp.1_Missense_Mutation_p.Q274K|SLC27A1_uc002ngv.1_Missense_Mutation_p.Q55K	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	453	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCTTGTGGGTCAGATCAACCA	0.657000														12			5		0.014758	0.0148049	0.184627	1	0
KDM4B	23030	broad.mit.edu	37	19	5131448	5131448	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:5131448G>A	uc010xim.2	+	11	1887	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	KDM4B_uc002mbq.4_Silent_p.P559P|KDM4B_uc002mbr.4_Silent_p.P317P	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	559					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAAGGGTCCGACCTGGAAGG	0.662000														53			25		0	0	0.693898	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101775612	101775612	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:101775612G>A	uc001pgl.3	-	4	968	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	124					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TAGTCAAAAGGAGAACTCTAT	0.363000														54			9		0	0	0.361761	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:55782888G>A	uc010qhy.1	-	19	2700	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	PCDH15_uc010qhq.2_Missense_Mutation_p.R769C|PCDH15_uc010qhr.2_Missense_Mutation_p.R764C|PCDH15_uc021pqv.1_Missense_Mutation_p.R764C|PCDH15_uc021pqw.1_Missense_Mutation_p.R776C|PCDH15_uc010qht.2_Missense_Mutation_p.R771C|PCDH15_uc021pqx.1_Missense_Mutation_p.R764C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R764C|PCDH15_uc021pqz.1_Missense_Mutation_p.R742C|PCDH15_uc010qhv.1_Missense_Mutation_p.R764C|PCDH15_uc010qhw.1_Missense_Mutation_p.R727C|PCDH15_uc010qhx.1_Missense_Mutation_p.R693C|PCDH15_uc010qhz.1_Missense_Mutation_p.R764C|PCDH15_uc010qia.1_Missense_Mutation_p.R742C|PCDH15_uc001jju.1_Missense_Mutation_p.R764C|PCDH15_uc010qib.1_Missense_Mutation_p.R742C|PCDH15_uc001jjw.3_Missense_Mutation_p.R764C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)				24			18		0	0	0.575678	0	0
SDK2	54549	broad.mit.edu	37	17	71364676	71364676	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:71364676G>A	uc010dfm.3	-	36	5037	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	SDK2_uc002jjt.4_Silent_p.F819F|SDK2_uc010dfn.2_Silent_p.F1358F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1679	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTCAGCCAGGAAAAGCGTCT	0.587000														5			8		0	0	0.307466	0	0
ABCB5	340273	broad.mit.edu	37	7	20778686	20778686	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:20778686C>T	uc010kuh.3	+	23	3185	c.2948C>T	c.(2947-2949)tCg>tTg	p.S983L	ABCB5_uc003suw.4_Missense_Mutation_p.S538L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	538					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAGCCAAATCGGGGGCTGCG	0.423000														38			11		0	0	0.457914	0	0
PSD2	84249	broad.mit.edu	37	5	139193816	139193816	+	Silent	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:139193816T>C	uc003leu.1	+	3	1088	c.883T>C	c.(883-885)Ttg>Ctg	p.L295L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	295	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGAGGGGTTGGAGCCTGG	0.627000														95			25		0	0	0.693898	0	0
RAD54L2	23132	broad.mit.edu	37	3	51690122	51690122	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:51690122G>A	uc011bdt.2	+	18	3287	c.3162G>A	c.(3160-3162)atG>atA	p.M1054I	RAD54L2_uc003dbh.3_Missense_Mutation_p.M643I|RAD54L2_uc011bdu.2_Missense_Mutation_p.M748I|RAD54L2_uc003dbj.3_Missense_Mutation_p.M380I	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1054						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ATCCATCCATGAACTTTCCCA	0.577000														79			34		0	0	0.779181	0	0
NTRK1	4914	broad.mit.edu	37	1	156844747	156844747	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156844747C>T	uc001fqh.1	+	10	1357	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	NTRK1_uc001fqf.1_Missense_Mutation_p.T398M|NTRK1_uc009wsi.1_Missense_Mutation_p.T133M|NTRK1_uc001fqi.1_Missense_Mutation_p.T428M|NTRK1_uc009wsk.1_Missense_Mutation_p.T428M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	434					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TTCCTTTCTACGCTGCTCCTT	0.582000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				140			42		0	0	0.870114	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682244	50682244	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:50682244G>A	uc003bkb.1	-	0	1157	c.645C>T	c.(643-645)ttC>ttT	p.F215F	TUBGCP6_uc010har.1_Silent_p.F215F|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hau.1_Silent_p.F215F	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	215					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAAGGGCCCCGAAGAGCGAGA	0.627000														41			11		0	0	0.411799	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581584	140581584	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140581584C>T	uc003liy.3	+	0	2237	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	746					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACCCTTTCCCAGAGCTAC	0.577000														176			70		0	0	0.870114	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967815	48967815	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:48967815G>A	uc002pje.1	+	2	1497	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	KCNJ14_uc002pjf.1_Silent_p.K364K	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	364						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGTGCTAAGGAGCTGGATG	0.542000														51			17		0	0	0.592651	0	0
WDR44	54521	broad.mit.edu	37	X	117527156	117527156	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:117527156C>T	uc004eqn.3	+	3	1179	c.748C>T	c.(748-750)Cct>Tct	p.P250S	WDR44_uc004eqo.3_Missense_Mutation_p.P250S|WDR44_uc011mtr.2_Missense_Mutation_p.P225S|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	250	Pro-rich.			P -> L (in Ref. 2; CAL38662).		Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm		p.P250H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCCCACCTCCTTCTCGACC	0.463000														200			41		0	0	0.870114	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944717	43944717	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:43944717C>T	uc010skx.2	-	1	448	c.448G>A	c.(448-450)Ggc>Agc	p.G150S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	150						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCACCAGGCCTCCGCATAAG	0.612000														6			5		0	0	0.248553	0	0
OR5J2	282775	broad.mit.edu	37	11	55944293	55944293	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:55944293C>T	uc010rjb.2	+	0	200	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGCTGTCTTTCATTTGTGGAT	0.438000														109			57		0	0	0.870114	0	0
EPHA4	2043	broad.mit.edu	37	2	222307567	222307568	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:222307567_222307568CC>TT	uc002vmq.3	-	10	2097_2098	c.2055_2056GG>AA	c.(2053-2058)ttggaa>ttAAaa	p.E686K	EPHA4_uc002vmr.2_Missense_Mutation_p.E686K|EPHA4_uc010zlm.1_Missense_Mutation_p.E627K	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	686	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCACGCCTTCCAAGTGAATGA	0.450000														48			42		0	0	0.115264	0	0
LOC649330	649330	broad.mit.edu	37	1	12907317	12907317	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:12907317C>T	uc010obf.2	-	1	1052	c.826G>A	c.(826-828)Gag>Aag	p.E276K	LOC649330_uc009vno.2_Missense_Mutation_p.E276K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	276							nucleic acid binding|nucleotide binding										TCCTCAGCCTCTTTTTCATCA	0.488000														122			42		0	0	0.870114	0	0
INPP5D	3635	broad.mit.edu	37	2	234112893	234112893	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:234112893C>T	uc010zmo.2	+	24	3163	c.3010C>T	c.(3010-3012)Ccc>Tcc	p.P1004S	INPP5D_uc010zmp.2_Missense_Mutation_p.P1003S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1033	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TAAGCCTGCTCCCAGGAAGGA	0.637000														15			21		0	0	0.624587	0	0
NOL4	8715	broad.mit.edu	37	18	31537398	31537398	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:31537398G>A	uc010dmi.3	-	7	1618	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	NOL4_uc010xbs.2_Silent_p.I155I|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Silent_p.I366I|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	440						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATGAGTCAATGATAGCCTGGA	0.468000														44			9		0	0	0.335167	0	0
CADM3	57863	broad.mit.edu	37	1	159163792	159163792	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:159163792G>A	uc001ftl.2	+	4	832	c.653G>A	c.(652-654)gGa>gAa	p.G218E	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.G252E	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	218	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCTCTAAAGGGAGCTGACAGA	0.502000														68			25		0	0	0.706142	0	0
SPEN	23013	broad.mit.edu	37	1	16257505	16257505	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16257505C>T	uc001axk.1	+	10	4974	c.4770C>T	c.(4768-4770)ctC>ctT	p.L1590L	SPEN_uc010obp.1_Silent_p.L1549L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1590					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTATGGAGCTCACACGGATGC	0.443000														24			13		0	0	0.435327	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:192153620G>A	uc001gsg.3	+	4	820	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R214G(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000														54			33		0	0	0.827153	0	0
WDR62	284403	broad.mit.edu	37	19	36595489	36595489	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:36595489C>T	uc002odd.2	+	30	4314	c.4223C>T	c.(4222-4224)cCc>cTc	p.P1408L	WDR62_uc002odc.2_Missense_Mutation_p.P1403L	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1403					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGCCCTGCCCCCATCTCCC	0.607000														39			27		0	0	0.693898	0	0
ZNF675	171392	broad.mit.edu	37	19	23844924	23844924	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:23844924T>C	uc002nri.3	-	2	400	c.218A>G	c.(217-219)gAa>gGa	p.E73G		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	73	KRAB.				I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTGGGGGTTCATTCACCAT	0.418000														84			37		0	0	0.834066	0	0
CPNE6	9362	broad.mit.edu	37	14	24544723	24544723	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:24544723G>A	uc010tnv.2	+	9	1098	c.952G>A	c.(952-954)Gac>Aac	p.D318N	CPNE6_uc001wlm.3_Missense_Mutation_p.D88N|CPNE6_uc001wll.3_Missense_Mutation_p.D263N|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	263	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GATGCAGTGGGACTGTATCAA	0.542000														8			7		0	0	0.278610	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059053	47059053	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:47059053C>T	uc003bhx.3	+	4	632	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	GRAMD4_uc010had.3_Missense_Mutation_p.P134S	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	195					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GACAGAGGAACCCCTGAGCGC	0.662000														82			46		0	0	0.870114	0	0
LIN9	286826	broad.mit.edu	37	1	226421194	226421194	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:226421194C>T	uc001hqa.2	-	12	1634	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	LIN9_uc001hqb.2_Missense_Mutation_p.D407N|LIN9_uc001hqc.3_Missense_Mutation_p.D374N|LIN9_uc009xel.1_Missense_Mutation_p.D407N	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	426					DNA replication|cell cycle	nucleoplasm		p.D442V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GTTGGCTGATCTGCAGGCTGG	0.473000														73			43		0	0	0.870114	0	0
P2RY10	27334	broad.mit.edu	37	X	78216762	78216762	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:78216762G>A	uc022bzl.1	+	0	745	c.745G>A	c.(745-747)Gct>Act	p.A249T	P2RY10_uc004ede.3_Missense_Mutation_p.A249T|P2RY10_uc004edf.3_Missense_Mutation_p.A249T	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	249						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTTCATGTGTGCTGCAGTCTT	0.438000														22			20		0	0	0.592651	0	0
CA5B	11238	broad.mit.edu	37	X	15790710	15790710	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:15790710C>T	uc004cxe.3	+	3	549	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	Homo sapiens carbonic anhydrase VB, mitochondrial (CA5B), nuclear gene encoding mitochondrial protein, mRNA.	144					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CTGAGCACACCGTGGACAGCA	0.488000														226			40		0	0	0.870114	0	0
HEATR8	374977	broad.mit.edu	37	1	55148437	55148437	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:55148437G>A	uc010ooe.1	+	13	2814	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.K398K|HEATR8_uc010ood.1_Silent_p.K348K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.K830K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.K32K	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	830						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGTCACCAAGGAGGGCCGGG	0.627000														30			13		0	0	0.520397	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439781	145439781	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:145439781C>T	uc003lnt.3	+	8	2146	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	SH3RF2_uc011dbl.1_Silent_p.I636I|SH3RF2_uc011dbm.1_Silent_p.I121I|SH3RF2_uc003lnu.3_Silent_p.I127I|SH3RF2_uc011dbn.1_Silent_p.I127I|SH3RF2_uc011dbo.2_Silent_p.I93I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	636							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATGGCATCGAAAAGGTAG	0.483000														55			35		0	0	0.870114	0	0
PLCH2	9651	broad.mit.edu	37	1	2422699	2422699	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:2422699G>A	uc001aji.1	+	10	1855	c.1581G>A	c.(1579-1581)tcG>tcA	p.S527S	PLCH2_uc010nyz.2_Silent_p.S316S|PLCH2_uc009vle.1_Silent_p.S316S|PLCH2_uc001ajj.1_Silent_p.S316S|PLCH2_uc001ajk.1_Silent_p.S316S	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	528					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R527S(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCAAAGAGTCGAAGATTCGGG	0.547000														31			26		0	0	0.681144	0	0
C1orf61	10485	broad.mit.edu	37	1	156386625	156386625	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156386625G>A	uc001fou.1	-	2	280	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	3						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TCCTCAGTCAGGAACATGCCA	0.418000														76			42		0	0	0.847076	0	0
KRT16	3868	broad.mit.edu	37	17	39768589	39768589	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:39768589T>C	uc002hxg.4	-	0	491	c.352A>G	c.(352-354)Aag>Gag	p.K118E	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.K118E	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	118	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ATGGTCACCTTCTCACTGCCC	0.597000														29			26		0	0	0.870114	0	0
TAF1L	138474	broad.mit.edu	37	9	32632446	32632446	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:32632446C>T	uc003zrg.1	-	0	3222	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1044					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCACATCAATCACTTCCCAGC	0.483000														102			72		0	0	0.870114	0	0
CASP5	838	broad.mit.edu	37	11	104874009	104874009	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:104874009G>A	uc010ruz.1	-	3	606	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	CASP5_uc010rva.1_Missense_Mutation_p.H179Y|CASP5_uc010rvb.1_Missense_Mutation_p.H121Y|CASP5_uc010rvc.1_Missense_Mutation_p.H37Y|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	179					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACCTCATCATGATTTTTTTTA	0.393000														79			42		0	0	0.870114	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440299	49440299	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:49440299C>T	uc001jgi.3	-	9	1358	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	FRMPD2_uc001jgh.3_Missense_Mutation_p.D312N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D312N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	343	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.D343D(1)|p.R342G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACACAGAGGTCCCTGAGAGCC	0.438000														18			15		0	0	0.500413	0	0
ANKRD36	375248	broad.mit.edu	37	2	97854837	97854837	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:97854837G>A	uc010yva.2	+	32	2401	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Intron|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	719										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTCTCAGAAGCAACCAGCCT	0.308000														11			5		0	0	0.217242	0	0
THSD7B	80731	broad.mit.edu	37	2	138169397	138169397	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:138169397G>A	uc002tva.1	+	12	2821	c.2821G>A	c.(2821-2823)Gat>Aat	p.D941N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.D831N	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCCTGTTCTGATAAAAATGG	0.532000														19			21		0	0	0.592651	0	0
OR2J2	26707	broad.mit.edu	37	6	29142309	29142309	+	Silent	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:29142309A>G	uc011dlm.2	+	0	999	c.897A>G	c.(895-897)aaA>aaG	p.K299K		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCATGTAAAAGGGGCAGCGA	0.438000														95			3		0	0	0.150653	0	0
KLK12	43849	broad.mit.edu	37	19	51535331	51535331	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51535331G>A	uc002pvh.1	-	3	375	c.258C>T	c.(256-258)atC>atT	p.I86I	KLK12_uc002pvg.1_Silent_p.I86I|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Silent_p.I86I|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	86	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CGCTGTGCCGGATCTGCTCGG	0.711000														11			3		0	0	0.150653	0	0
DMD	1756	broad.mit.edu	37	X	32429938	32429938	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:32429938G>A	uc004dda.1	-	29	4408	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F	DMD_uc004dcw.2_Silent_p.F44F|DMD_uc004dcx.2_Silent_p.F47F|DMD_uc004dcz.2_Silent_p.F1265F|DMD_uc004dcy.1_Silent_p.F1384F|DMD_uc004ddb.1_Silent_p.F1380F|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1388			F -> V (in dbSNP:rs28715870).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTGTCAATGAATGTGAGGG	0.473000														42			33		0	0	0.779181	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993623	140993623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:140993623C>T	uc004fbt.3	+	3	757	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	145							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)					GAGTATTTTCCAGAGTTCCCC	0.498000										HNSCC(15;0.026)				55			26		0	0	0.706142	0	0
TRIM13	10206	broad.mit.edu	37	13	50586298	50586298	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:50586298C>T	uc001vdp.1	+	3	649	c.231C>T	c.(229-231)tcC>tcT	p.S77S	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Silent_p.S74S|TRIM13_uc001vdr.1_Silent_p.S74S|TRIM13_uc001vds.1_Silent_p.S74S|TRIM13_uc021rjq.1_Silent_p.S74S	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	74					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTAATTACTCCCTGAAGGGTA	0.453000														58			24		0	0	0.654019	0	0
NRGN	4900	broad.mit.edu	37	11	124615495	124615495	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:124615495C>T	uc001qaq.2	+	1	264	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	NRGN_uc001qar.2_Missense_Mutation_p.R38W	NM_006176	NP_006167	Q92686	NEUG_HUMAN	Homo sapiens neurogranin (protein kinase C substrate, RC3) (NRGN), transcript variant 1, mRNA.	38	IQ.				nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GGCGAGTTTTCGGGGCCACAT	0.706000														21			7		0	0	0.307466	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310403	57310403	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:57310403G>A	uc021qjh.1	+	0	290	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	96										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AACTTAAAAAGGAGGATGGTG	0.498000														6			2		0	0	0.115264	0	0
GLCE	26035	broad.mit.edu	37	15	69548365	69548365	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:69548365G>A	uc002ary.1	+	2	448	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	74					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACAACAGTCTGAGGAAGCATT	0.473000														92			29		0	0	0.779181	0	0
TLL1	7092	broad.mit.edu	37	4	166964467	166964467	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:166964467C>T	uc003irh.2	+	11	2067	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	TLL1_uc011cjn.2_Nonsense_Mutation_p.Q474*|TLL1_uc011cjo.2_Nonsense_Mutation_p.Q298*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	474	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGATTCAGTCTCCCAA	0.413000														124			43		0	0	0.870114	0	0
ATP7B	540	broad.mit.edu	37	13	52531705	52531705	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:52531705G>A	uc001vfw.2	-	8	2551	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	ATP7B_uc001vfy.2_Silent_p.L687L|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.L636L|ATP7B_uc010tgt.1_Silent_p.L798L|ATP7B_uc010tgu.1_Silent_p.L750L|ATP7B_uc010tgv.1_Silent_p.L720L|ATP7B_uc001vfv.2_Silent_p.L70L|ATP7B_uc010tgs.1_Silent_p.L70L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	798					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGTGGCTTGGAGAGACATGA	0.443000									Wilson disease					66			25		0	0	0.729181	0	0
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:123593796G>A	uc003vle.3	+	2	611	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E58K|SPAM1_uc022aks.1_Missense_Mutation_p.E58K|SPAM1_uc003vlf.4_Missense_Mutation_p.E58K|SPAM1_uc010lku.3_Missense_Mutation_p.E58K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	58					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGCCCCAAGTGAATTTTGTCT	0.448000														31			27		0	0	0.740014	0	0
CETN2	1069	broad.mit.edu	37	X	151997732	151997732	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:151997732C>T	uc004fgq.3	-	2	299	c.252G>A	c.(250-252)atG>atA	p.M84I	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	84	EF-hand 2.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAAGTTCATTTTTCCTG	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)						90			27		0	0	0.760397	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141459	63141459	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:63141459C>T	uc001nww.3	+	3	1023	c.755C>T	c.(754-756)gCt>gTt	p.A252V	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	252					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GCAGGCCTGGCTTTTGCCATT	0.483000														28			4		0	0	0.217242	0	0
KRT6B	3854	broad.mit.edu	37	12	52845694	52845694	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:52845694C>T	uc001sak.3	-	0	217	c.169G>A	c.(169-171)Ggc>Agc	p.G57S		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	57	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCGGCTGCCAAAGCCAGCT	0.672000														140			30		0	0	0.788014	0	0
PIEZO2	63895	broad.mit.edu	37	18	10681742	10681742	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:10681742G>A	uc002kos.2	-	46	7530	c.7356C>T	c.(7354-7356)ttC>ttT	p.F2452F	PIEZO2_uc002koq.3_Silent_p.F244F	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2452						integral to membrane	ion channel activity										CACTCATTGTGAAAATAGGCT	0.393000														50			25		0	0	0.750413	0	0
MEGF8	1954	broad.mit.edu	37	19	42841001	42841001	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:42841001T>A	uc002otl.4	+	6	1922	c.1287T>A	c.(1285-1287)gaT>gaA	p.D429E	MEGF8_uc002otm.4_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	429						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCACGTGGATCGGCATGTGT	0.607000														68			35		0	0	0.834066	0	0
RNF17	56163	broad.mit.edu	37	13	25362126	25362126	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:25362126G>A	uc001upr.3	+	7	653	c.612_splice	c.e7-1	p.R204_splice	RNF17_uc010tdd.1_Splice_Site_p.R63_splice|RNF17_uc010tde.2_Splice_Site_p.R204_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.R143_splice|RNF17_uc001upq.1_Splice_Site_p.R204_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	204					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTAAATGAAGGAAAAAGAACC	0.264000														62			15		0	0	0.539581	0	0
GREM1	26585	broad.mit.edu	37	15	33023430	33023430	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:33023430C>T	uc001zhe.2	+	1	698	c.539C>T	c.(538-540)tCc>tTc	p.S180F	GREM1_uc010uby.2_Missense_Mutation_p.S139F|GREM1_uc001zhd.2_Missense_Mutation_p.S110F|GREM1_uc021sio.1_Missense_Mutation_p.S180F	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	180	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		CGTTGCATATCCATCGATTTG	0.478000														66			23		0	0	0.667858	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512186	104512186	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:104512186G>A	uc004elz.1	+	4	1415	c.659G>A	c.(658-660)gGa>gAa	p.G220E		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	220	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATATGAAGGAAAACTTGTA	0.333000														43			30		0	0	0.760397	0	0
RPUSD4	84881	broad.mit.edu	37	11	126073526	126073526	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:126073526C>T	uc001qde.3	-	6	975	c.921G>A	c.(919-921)aaG>aaA	p.K307K	RPUSD4_uc010sbl.2_Silent_p.K114K|RPUSD4_uc009zbz.3_Silent_p.K276K	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	307					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTAGCCCCAGCTTCTTCAGGG	0.587000														35			9		0	0	0.361761	0	0
PARP15	165631	broad.mit.edu	37	3	122345787	122345787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:122345787C>T	uc003efm.2	+	8	1411	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Nonsense_Mutation_p.Q196*|PARP15_uc003efp.1_Nonsense_Mutation_p.Q215*|PARP15_uc011bjt.1_Intron	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TGTCATTTTTCAACCTGAGCT	0.368000														47			13		0	0	0.479597	0	0
SLC6A12	6539	broad.mit.edu	37	12	300272	300272	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:300272C>T	uc001qhz.3	-	16	2471	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	SLC6A12_uc001qhy.3_Missense_Mutation_p.E159K|SLC6A12_uc001qia.3_Missense_Mutation_p.E603K|SLC6A12_uc001qib.3_Missense_Mutation_p.E603K|SLC6A12_uc009zdh.2_Missense_Mutation_p.E603K	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	603					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATCAGTCCTTCCCTTGTTGGG	0.622000														17			4		0	0	0.248553	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952211	144952211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:144952211G>A	uc021ouh.1	-	3	810	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.Q170*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.Q236*|PDE4DIP_uc001emd.2_Nonsense_Mutation_p.Q170*|PDE4DIP_uc001emc.2_Nonsense_Mutation_p.Q170*|PDE4DIP_uc001emg.2_Nonsense_Mutation_p.Q170*|PDE4DIP_uc021oui.1_Nonsense_Mutation_p.Q173*|PDE4DIP_uc021ouj.1_Nonsense_Mutation_p.Q138*|PDE4DIP_uc001emh.3_Nonsense_Mutation_p.Q307*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	170					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGTCCCTCTGGGCCAGGGCC	0.522000			T	PDGFRB	MPD									147			12		0	0	0.539581	0	0
PTPN9	5780	broad.mit.edu	37	15	75761126	75761126	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:75761126G>A	uc002bal.3	-	12	2274	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	589						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCTCCACGGCCAGCAGGTT	0.532000														130			85		0	0	0.870114	0	0
TJP3	27134	broad.mit.edu	37	19	3734316	3734316	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:3734316C>T	uc010xhv.2	+	6	968	c.968C>T	c.(967-969)cCc>cTc	p.P323L	TJP3_uc010xhs.2_Intron|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Intron|TJP3_uc010xhw.2_Intron	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	304						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCTCTCCCCCTGCAGAC	0.602000														41			16		0	0	0.539581	0	0
POTEE	445582	broad.mit.edu	37	2	132021833	132021833	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:132021833C>T	uc002tsn.2	+	14	2857	c.2805C>T	c.(2803-2805)tcC>tcT	p.S935S	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.S535S|POTEE_uc002tsl.2_Silent_p.S517S|POTEE_uc010fmy.1_Silent_p.S399S	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	935	Actin-like.						ATP binding										CCAGCTCCTCCCTAGAGAAGA	0.627000														223			7		0	0	0.435327	0	0
AZGP1	563	broad.mit.edu	37	7	99569492	99569492	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:99569492C>T	uc003ush.3	-	1	306	c.214G>A	c.(214-216)Gga>Aga	p.G72R		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	72					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTCCAGAGTCCCATGGGCTGA	0.512000														97			36		0	0	0.827153	0	0
WNK3	65267	broad.mit.edu	37	X	54360030	54360030	+	Missense_Mutation	SNP	A	G	G	rs146463327		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:54360030A>G	uc004dtc.2	-	1	516	c.77T>C	c.(76-78)gTt>gCt	p.V26A	WNK3_uc004dtd.2_Missense_Mutation_p.V26A	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	26					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GACCTGGGGAACTCTGTTTTC	0.418000														44			23		0	0	0.654019	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														38			3		0	0	0.115264	0	0
PDGFRA	5156	broad.mit.edu	37	4	55124954	55124954	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:55124954G>A	uc003han.4	+	1	350	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Missense_Mutation_p.A7T|PDGFRA_uc010igq.1_Missense_Mutation_p.A7T|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	7					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A7E(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCATCCGGCGTTCCTGGT	0.473000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				90			30		0	0	0.819951	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254232	1254232	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:1254232C>T	uc002cks.3	+	9	2473	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	CACNA1H_uc002ckt.3_Missense_Mutation_p.P742L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	742					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGCTGGGACCCCACGCGACCA	0.711000														12			4		0	0	0.184627	0	0
SNPH	9751	broad.mit.edu	37	20	1285629	1285629	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:1285629G>A	uc002wet.3	+	6	1229	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SNPH_uc002wes.3_Missense_Mutation_p.R139Q	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	139					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGGAGGCCCGAAAGGAGATC	0.557000														121			38		0	0	0.840704	0	0
MED12	9968	broad.mit.edu	37	X	70348501	70348501	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:70348501C>T	uc004dyy.3	+	23	3607	c.3408C>T	c.(3406-3408)atC>atT	p.I1136I	MED12_uc011mpq.1_Silent_p.I1136I|MED12_uc004dyz.3_Silent_p.I1136I|MED12_uc004dza.3_Silent_p.I983I|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1136					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCATCCTCATCGCTCGGCAGT	0.498000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			9		0	0	0.387290	0	0
FLG2	388698	broad.mit.edu	37	1	152326000	152326000	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:152326000C>T	uc001ezw.4	-	2	4335	c.4262G>A	c.(4261-4263)gGa>gAa	p.G1421E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1421							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGCCAGATCCCCTTCTTCC	0.527000														249			109		0	0	0.870114	0	0
CLCNKA	1187	broad.mit.edu	37	1	16350376	16350376	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16350376C>T	uc001axu.3	+	2	262	c.182C>T	c.(181-183)gCc>gTc	p.A61V	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.A61V|CLCNKA_uc001axv.3_Missense_Mutation_p.A61V	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	61					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTGCTCATGGCCCTGGTCAGC	0.602000														53			36		0	0	0.834066	0	0
ALPK3	57538	broad.mit.edu	37	15	85403135	85403135	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:85403135G>A	uc002ble.3	+	8	4866	c.4699_splice	c.e8+1	p.V1567_splice		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1567					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCCTGAGGGTGAGTGTGCC	0.657000														110			50		0	0	0.870114	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348818	122348818	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:122348818C>T	uc001lev.1	+	6	972	c.620C>T	c.(619-621)tCc>tTc	p.S207F	PPAPDC1A_uc009xzl.1_Missense_Mutation_p.S144F|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.P57S|PPAPDC1A_uc001ley.1_Missense_Mutation_p.S86F	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	207					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGCCTAGATTCCTTTGTGGGT	0.443000														64			44		0	0	0.870114	0	0
POLI	11201	broad.mit.edu	37	18	51820391	51820391	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:51820391C>G	uc002lfj.4	+	9	1845	c.1777C>G	c.(1777-1779)Cag>Gag	p.Q593E	POLI_uc010xds.2_Missense_Mutation_p.Q514E|POLI_uc002lfk.4_Missense_Mutation_p.Q490E|POLI_uc010dpg.3_Missense_Mutation_p.Q189E	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	593	Ser-rich.				DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CAGTAGCAAACAGGTATCCTC	0.348000								DNA polymerases (catalytic subunits)						40			13		0	0	0.500413	0	0
FAM217A	222826	broad.mit.edu	37	6	4073562	4073562	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:4073562C>T	uc003mvx.3	-	5	655	c.249G>A	c.(247-249)ggG>ggA	p.G83G	FAM217A_uc010jnq.1_Non-coding_Transcript|FAM217A_uc003mvy.3_Silent_p.G20G	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	83																	ATTGAAAGATCCCTTGTTTAC	0.279000														70			29		0	0	0.788014	0	0
ABCC6	368	broad.mit.edu	37	16	16302704	16302704	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:16302704C>A	uc002den.4	-	6	712	c.675G>T	c.(673-675)agG>agT	p.R225S	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.R237S	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	225					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCTGTATCCCCTCCAGACCA	0.557000														31			12		1.30897e-18	1.33435e-18	0.740014	1	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:40114658G>A	uc001rmc.3	+	12	1731	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	522										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAAGGAAAAAATGAA	0.294000														76			16		0	0	0.592651	0	0
INTS4	92105	broad.mit.edu	37	11	77602489	77602489	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:77602489G>A	uc001oys.3	-	20	2496	c.2468C>T	c.(2467-2469)aCc>aTc	p.T823I	C11orf67_uc001oyp.3_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.3_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	823					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTCGATGATGGTGGCTGAGGC	0.493000														24			3		0	0	0.217242	0	0
PRDM9	56979	broad.mit.edu	37	5	23527083	23527083	+	Missense_Mutation	SNP	G	C	C	rs112192848		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:23527083G>C	uc003jgo.3	+	10	2068	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	629					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGAGACACACAGGG	0.612000										HNSCC(3;0.000094)				77			3		0	0	0.150653	0	0
GRM3	2913	broad.mit.edu	37	7	86468162	86468162	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:86468162C>T	uc003uid.3	+	3	2431	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.F316F|GRM3_uc010leh.3_Silent_p.F36F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	444					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGCTCCATTCAACCCAAATA	0.358000														24			11		0	0	0.435327	0	0
OR51A4	401666	broad.mit.edu	37	11	4968138	4968138	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4968138G>A	uc010qys.2	-	0	193	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACATGGAAAGAAAATAGTAC	0.423000														58			20		0	0	0.639603	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914491	111914491	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:111914491G>A	uc004epp.3	-	0	270	c.197C>T	c.(196-198)tCa>tTa	p.S66L	LHFPL1_uc004epq.3_Missense_Mutation_p.S43L|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.S43L	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	43						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TGTGCTGAATGACACTGGCTT	0.542000														140			86		0	0	0.870114	0	0
ACAN	176	broad.mit.edu	37	15	89414753	89414753	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:89414753G>A	uc010upo.1	+	13	7461	c.7087G>A	c.(7087-7089)Gag>Aag	p.E2363K	ACAN_uc010upp.1_Missense_Mutation_p.E2325K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2363					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCCCCGAGGAGCAGGAGTT	0.632000														41			13		0	0	0.435327	0	0
OR52J3	119679	broad.mit.edu	37	11	5068032	5068032	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5068032G>A	uc010qyv.2	+	0	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E93K(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTCACGAGATTAACTA	0.488000														41			16		0	0	0.575678	0	0
STIL	6491	broad.mit.edu	37	1	47737845	47737845	+	Silent	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:47737845T>C	uc001crd.1	-	12	2441	c.2286A>G	c.(2284-2286)acA>acG	p.T762T	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.T715T|STIL_uc010omo.1_Silent_p.T762T|STIL_uc001crc.1_Silent_p.T762T|STIL_uc001cre.1_Silent_p.T762T|STIL_uc001crf.1_Silent_p.T375T|STIL_uc001crg.1_Silent_p.T715T	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	762	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CAGCTTGCACTGTGTCTTCAA	0.448000														81			3		0	0	0.150653	0	0
C12orf56	115749	broad.mit.edu	37	12	64679829	64679829	+	Silent	SNP	A	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:64679829A>T	uc021qzu.1	-	6	1125	c.1125T>A	c.(1123-1125)ctT>ctA	p.L375L	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.L215L|C12orf56_uc001srz.3_5'UTR|C12orf56_uc001sry.3_5'UTR	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	378										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGAAATAGAAAAGGTCACTGG	0.348000														17			9		0	0	0.361761	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834288	125834288	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:125834288C>T	uc001uhe.1	+	1	351	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	TMEM132B_uc021rgl.1_Missense_Mutation_p.P5S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	115						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGACAAATTTCCCTTCAACTG	0.468000														79			63		0	0	0.870114	0	0
RPLP2	6181	broad.mit.edu	37	11	812574	812574	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:812574T>A	uc001lrq.1	+	3	317	c.212T>A	c.(211-213)gTa>gAa	p.V71E		NM_001004	NP_000995	P05387	RLA2_HUMAN	Homo sapiens ribosomal protein, large, P2 (RPLP2), mRNA.	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGGGCTGTAGCCGTCTCT	0.637000														34			20		0	0	0.693898	0	0
PDE9A	5152	broad.mit.edu	37	21	44151974	44151974	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:44151974G>A	uc002zbm.3	+	4	420	c.357G>A	c.(355-357)agG>agA	p.R119R	PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Intron|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Intron|PDE9A_uc002zca.3_Silent_p.R78R|PDE9A_uc002zcb.3_Silent_p.R93R|PDE9A_uc002zcc.3_Intron|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Silent_p.R52R|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	119					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						AGCCCCGGAGGGAAGGAGCAT	0.622000														29			25		0	0	0.717897	0	0
VWA2	340706	broad.mit.edu	37	10	116014789	116014789	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:116014789G>A	uc001lbl.1	+	3	564	c.243G>A	c.(241-243)ctG>ctA	p.L81L	VWA2_uc001lbk.1_Silent_p.L81L|VWA2_uc009xyf.1_Intron	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	81	VWFA 1.					extracellular region		p.G80S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTGACGGTCTGGACATCAGCC	0.527000														62			57		0	0	0.870114	0	0
EFHB	151651	broad.mit.edu	37	3	19926043	19926044	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:19926043_19926044GA>AC	uc003cbl.4	-	10	2193_2194	c.1997_1998TC>GT	c.(1996-1998)ctc>cGT	p.L666R	EFHB_uc003cbm.3_Missense_Mutation_p.L536R	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	666					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGGCTTTATGAGGAGAGTTTG	0.366000														76			10		0	0	0.115264	0	0
SRRM2	23524	broad.mit.edu	37	16	2812878	2812878	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:2812878C>T	uc002crk.3	+	10	2898	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S	SRRM2_uc002crj.1_Silent_p.S687S|SRRM2_uc002crl.1_Silent_p.S783S|SRRM2_uc010bsu.1_Silent_p.S687S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	783	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGGTCTTCCCCATGCCCTA	0.532000														204			81		0	0	0.870114	0	0
CDH20	28316	broad.mit.edu	37	18	59167683	59167683	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:59167683G>A	uc010dps.1	+	2	761	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CDH20_uc002lif.2_Silent_p.V197V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCCAGGGTGGTGTACAGCA	0.488000														103			51		0	0	0.870114	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627853	12627853	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:12627853G>A	uc004cuz.2	+	2	678	c.172G>A	c.(172-174)Gca>Aca	p.A58T	FRMPD4_uc011mij.2_Missense_Mutation_p.A50T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	58	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATGACACAGGCAATCCCTTT	0.478000														83			14		0	0	0.479597	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414384	22414384	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:22414384G>A	uc001yuf.3	+	0	923	c.683G>A	c.(682-684)tGa>tAa	p.*228*	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CACATAGCCTGAAAAAGGGCA	0.318000														19			5		0	0	0.184627	0	0
CDYL2	124359	broad.mit.edu	37	16	80718528	80718528	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:80718528G>A	uc002ffs.3	-	1	628	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	175						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCAGGCTGATGGGACCCATTT	0.502000														66			42		0	0	0.853193	0	0
LTBP3	4054	broad.mit.edu	37	11	65315017	65315017	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:65315017G>A	uc001oej.3	-	13	2269	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Missense_Mutation_p.P97L|LTBP3_uc010roi.2_Missense_Mutation_p.P550L|LTBP3_uc001oei.3_Missense_Mutation_p.P667L|LTBP3_uc010roj.2_Missense_Mutation_p.P368L|LTBP3_uc010rok.1_Missense_Mutation_p.P578L	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	667	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACAGGTGGGGCTTGGCGCA	0.657000														69			12		0	0	0.479597	0	0
ACTR10	55860	broad.mit.edu	37	14	58701235	58701235	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:58701235C>T	uc001xdf.3	+	12	1323	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_Missense_Mutation_p.P209L|ACTR10_uc010trp.2_Non-coding_Transcript|ACTR10_uc010apc.3_Missense_Mutation_p.P197L	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	407						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ACTCAACCACCTCTGATGAAG	0.348000														58			27		0	0	0.750413	0	0
SNX33	257364	broad.mit.edu	37	15	75941532	75941533	+	Missense_Mutation	DNP	TT	GC	GC			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:75941532_75941533TT>GC	uc002bau.3	+	0	185_186	c.89_90TT>GC	c.(88-90)ttt>tGC	p.F30C	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	30	SH3.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTGGTCATCTTTAGCGAGACCT	0.569000														136			65		0	0	0.115264	0	0
FCER1A	2205	broad.mit.edu	37	1	159275833	159275833	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:159275833C>T	uc001ftq.3	+	4	484	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	129	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AGCCCCTCTTCCTCAGGTGCC	0.458000														58			27		0	0	0.729181	0	0
ARAF	369	broad.mit.edu	37	X	47424737	47424737	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47424737C>T	uc011mlp.2	+	5	739	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ARAF_uc011mln.2_Non-coding_Transcript|ARAF_uc011mlo.2_Missense_Mutation_p.P48L|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	182					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTGCTAACCCCCCAGGGTCCC	0.537000														40			28		0	0	0.750413	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826725	25826726	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:25826725_25826726GG>AA	uc003nfh.4	-	2	286_287	c.170_171CC>TT	c.(169-171)ccc>cTT	p.P57L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.P57L|SLC17A1_uc010jqc.1_Missense_Mutation_p.P55L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAGGTGTTGGGCAAACCATG	0.406000														134			59		0	0	0.115264	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:37677213G>A	uc002ofq.3	-	4	1478	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585B_uc002ofr.1_Missense_Mutation_p.S223L	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	409					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)			GCATATATACGATTTTTCTCC	0.423000														67			28		0	0	0.750413	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935623	94935623	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94935623C>T	uc001ydf.3	-	1	770	c.609G>A	c.(607-609)ggG>ggA	p.G203G	SERPINA9_uc001yde.3_Silent_p.G103G|SERPINA9_uc010avc.3_Silent_p.G54G|SERPINA9_uc001ydg.3_Silent_p.G167G|SERPINA9_uc001ydh.1_Silent_p.G203G|SERPINA9_uc001ydi.1_Silent_p.G167G	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	185					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTACAACCTTCCCTTGGGTCT	0.438000														142			53		0	0	0.870114	0	0
FAM135B	51059	broad.mit.edu	37	8	139165019	139165019	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:139165019C>T	uc003yuy.3	-	12	1870	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FAM135B_uc003yux.3_Missense_Mutation_p.E468K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E129K|FAM135B_uc003yvb.3_Missense_Mutation_p.E129K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	567										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCAGGGGTTCAGCTCTGGAG	0.498000										HNSCC(54;0.14)				57			20		0	0	0.575678	0	0
RIMS2	9699	broad.mit.edu	37	8	104709408	104709408	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:104709408A>G	uc003ylp.3	+	1	410	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	122	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGCGCCAACCTGTGGTAT	0.448000										HNSCC(12;0.0054)				67			12		0	0	0.457914	0	0
CACNA1E	777	broad.mit.edu	37	1	181741281	181741281	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:181741281C>T	uc009wxt.3	+	36	5248	c.5053C>T	c.(5053-5055)Cca>Tca	p.P1685S	CACNA1E_uc001gow.3_Missense_Mutation_p.P1685S|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1666S|CACNA1E_uc001gox.1_Missense_Mutation_p.P911S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1685					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCACCGCACCATCAGGGCA	0.552000														111			61		0	0	0.870114	0	0
PLCB3	5331	broad.mit.edu	37	11	64029508	64029508	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64029508C>T	uc009ypi.3	+	16	2125	c.1998C>T	c.(1996-1998)aaC>aaT	p.N666N	PLCB3_uc009ypg.2_Silent_p.N666N|PLCB3_uc009yph.2_Silent_p.N599N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	666	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCTTCTGGAACGTAGGGTGCC	0.592000														54			25		0	0	0.706142	0	0
ZP2	7783	broad.mit.edu	37	16	21209161	21209161	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:21209161G>T	uc010bwn.1	-	17	2193	c.2111C>A	c.(2110-2112)tCa>tAa	p.S704*	ZP2_uc002dii.2_Nonsense_Mutation_p.S674*	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	674					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TAGATCAGATGAGCCGACACC	0.483000														89			38		2.64894e-19	2.70466e-19	0.870114	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51958750	51958751	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51958750_51958751CC>TA	uc002pwt.3	-	3	1039_1040	c.972_973GG>TA	c.(970-975)ggggaa>ggTAaa	p.E325K	SIGLEC8_uc010yda.2_Missense_Mutation_p.E216K|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.E232K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	325	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGTGAATTCCCCTTCATCCC	0.649000														42			20		0	0	0.115264	0	0
MYO18B	84700	broad.mit.edu	37	22	26422717	26422717	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:26422717G>A	uc003abz.1	+	42	7027	c.6777G>A	c.(6775-6777)agG>agA	p.R2259R	MYO18B_uc003aca.1_Silent_p.R2140R|MYO18B_uc010guy.1_Silent_p.R2141R|MYO18B_uc010guz.1_Silent_p.R2139R|MYO18B_uc011aka.1_Silent_p.R1413R|MYO18B_uc011akb.1_Silent_p.R1772R|MYO18B_uc010gva.1_Silent_p.R242R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2259						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.R2259W(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTCCGGAGGAAGAGAGCCC	0.632000														11			3		0	0	0.115264	0	0
LMCD1	29995	broad.mit.edu	37	3	8590277	8590277	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:8590277C>T	uc003bqq.3	+	3	525	c.411C>T	c.(409-411)atC>atT	p.I137I	LMCD1_uc011atd.2_Silent_p.I64I|LMCD1_uc011ate.2_Silent_p.I25I|LMCD1_uc011atf.1_Silent_p.I64I	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	137	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TGGAGCTCATCCCCAAGGAGA	0.557000														28			26		0	0	0.717897	0	0
ADNP	23394	broad.mit.edu	37	20	49509288	49509288	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:49509288G>T	uc002xvt.1	-	4	2308	c.1963C>A	c.(1963-1965)Cca>Aca	p.P655T	ADNP_uc002xvu.1_Missense_Mutation_p.P655T	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	655						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTCTCAACTGGATGAACCGTC	0.443000														114			42		9.58827e-17	9.75839e-17	0.870114	1	0
FAM75E1	286234	broad.mit.edu	37	9	90502202	90502202	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:90502202C>T	uc004app.4	+	3	2835	c.2800C>T	c.(2800-2802)Ccg>Tcg	p.P934S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	934						integral to membrane											CCAGAGGCCCCCGAGAGGGTC	0.622000														66			19		0	0	0.575678	0	0
DMBT1	1755	broad.mit.edu	37	10	124345772	124345772	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:124345772C>T	uc001lgk.1	+	15	1762	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	DMBT1_uc001lgl.1_Silent_p.G542G|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.G552G|DMBT1_uc021qag.1_Silent_p.G542G|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.G552G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	552	SRCR 4.				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	p.G552V(1)		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)				TTGGTCAGGGCTCAGGACCCA	0.592000														81			98		0	0	0.870114	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564393	61564393	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:61564393G>A	uc010xeu.2	+	4	690	c.357G>A	c.(355-357)ggG>ggA	p.G119G	SERPINB2_uc002ljo.3_Silent_p.G119G|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	119					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CATCCACAGGGAATTATTTAC	0.408000														80			27		0	0	0.717897	0	0
C1orf56	54964	broad.mit.edu	37	1	151020721	151020721	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:151020721G>A	uc001ewn.3	+	0	463	c.398G>A	c.(397-399)gGg>gAg	p.G133E	C1orf56_uc021oyi.1_Missense_Mutation_p.G133E	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	133						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			AATACAGCGGGGAGTTCCAGC	0.557000														51			21		0	0	0.592651	0	0
CLCA4	22802	broad.mit.edu	37	1	87033125	87033125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:87033125C>T	uc009wcs.3	+	6	1017	c.973C>T	c.(973-975)Cga>Tga	p.R325*	CLCA4_uc009wct.3_Nonsense_Mutation_p.R88*|CLCA4_uc009wcu.3_Nonsense_Mutation_p.R145*	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	325	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R325Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCGCCTAAATCGAATGAATCA	0.363000														49			20		0	0	0.639603	0	0
SULF2	55959	broad.mit.edu	37	20	46319016	46319016	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:46319016G>A	uc002xto.3	-	4	921	c.591C>T	c.(589-591)acC>acT	p.T197T	SULF2_uc002xtr.3_Silent_p.T197T|SULF2_uc002xtq.3_Silent_p.T197T|SULF2_uc010ghv.1_Silent_p.T197T	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	197					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGCTGTCATTGGTGATGAGGT	0.587000														36			11		0	0	0.435327	0	0
NLRC4	58484	broad.mit.edu	37	2	32476208	32476208	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:32476208C>T	uc002roi.3	-	3	986	c.725G>A	c.(724-726)aGg>aAg	p.R242K	NLRC4_uc021vfq.1_Missense_Mutation_p.R242K|NLRC4_uc002roj.2_Missense_Mutation_p.R242K|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	242	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.Q241H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAAAAGAACCCTCTGCCGCAG	0.488000														44			34		0	0	0.812448	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960839	73960839	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:73960839C>A	uc004eby.3	-	2	4170	c.3553G>T	c.(3553-3555)Ggg>Tgg	p.G1185W		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1185					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCATAGCCCCACTCTTGCTG	0.408000														66			34		1.84765e-07	1.86241e-07	0.788014	1	0
VDAC3	7419	broad.mit.edu	37	8	42259390	42259390	+	Silent	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:42259390A>G	uc022aul.1	+	5	413	c.411A>G	c.(409-411)ccA>ccG	p.P137P	VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.P136P|VDAC3_uc011lct.2_Silent_p.P136P	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	136					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	p.T137T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TTTCTGGACCAACCATCTATG	0.423000														123			33		0	0	0.827153	0	0
OR6C4	341418	broad.mit.edu	37	12	55945604	55945604	+	Silent	SNP	C	T	T	rs149076957	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:55945604C>T	uc010spp.2	+	0	594	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGATGGTCATCCTCTTGGCCG	0.468000														57			34		0	0	0.847076	0	0
NOS3	4846	broad.mit.edu	37	7	150692318	150692318	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:150692318C>T	uc003wif.3	+	2	482	c.186C>T	c.(184-186)ccC>ccT	p.P62P	NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Silent_p.P62P|NOS3_uc011kuz.2_Silent_p.P62P|NOS3_uc011kvb.2_Silent_p.P62P	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	62					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TAACCCAGCCCCCAGAGGGGC	0.637000														52			14		0	0	0.520397	0	0
LOC440563	440563	broad.mit.edu	37	1	13183278	13183279	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:13183278_13183279CC>TT	uc010obg.2	-	1	837_838	c.594_595GG>AA	c.(592-597)ctggaa>ctAAaa	p.E199K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	199						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TCCAGGTTTTCCAGGAGAGAAT	0.441000														255			37		0	0	0.115264	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:3235706C>T	uc004crg.4	-	5	6173	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2006	Ig-like C2-type 4.					extracellular region		p.H2005H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000														32			12		0	0	0.411799	0	0
PEAR1	375033	broad.mit.edu	37	1	156874639	156874639	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156874639G>A	uc001fqj.1	+	2	317	c.201G>A	c.(199-201)caG>caA	p.Q67Q	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	67	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGCCCCCAGCCCACGTGAG	0.652000														35			17		0	0	0.557998	0	0
PLAC4	191585	broad.mit.edu	37	21	42551311	42551311	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:42551311A>G	uc002yyz.3	-	0	5856	c.245T>C	c.(244-246)aTa>aCa	p.I82T	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	82													Prostate(19;2.29e-06)				gagtgagggtatccagggtga	0.602000														13			2		0	0	0.115264	0	0
ZFAT	57623	broad.mit.edu	37	8	135669926	135669926	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:135669926G>A	uc003yup.3	-	1	260	c.74C>T	c.(73-75)tCg>tTg	p.S25L	ZFAT_uc003yun.3_Missense_Mutation_p.S13L|ZFAT_uc003yuo.3_Missense_Mutation_p.S13L|ZFAT_uc010meh.3_Missense_Mutation_p.S13L|ZFAT_uc010mej.3_Missense_Mutation_p.S25L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.S13L|ZFAT_uc003yur.3_Missense_Mutation_p.S13L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.S13L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGGAGTTCCGACTGATTTGG	0.408000														40			7		0	0	0.335167	0	0
FOXK2	3607	broad.mit.edu	37	17	80543973	80543973	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:80543973G>A	uc002kfn.3	+	6	1644	c.1473G>A	c.(1471-1473)gcG>gcA	p.A491A	FOXK2_uc002kfm.1_Silent_p.A491A|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	491					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGGCCCCAGCGAACACGTACA	0.647000														21			32		0	0	0.819951	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618064	111618064	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:111618064G>A	uc004bdi.3	-	0	212	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	49						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.K48N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGACCGCCTTGATCTTGTGCA	0.642000														106			57		0	0	0.870114	0	0
HOXD12	3238	broad.mit.edu	37	2	176964993	176964993	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:176964993G>A	uc010zev.1	+	0	464	c.464G>A	c.(463-465)gGg>gAg	p.G155E	HOXD12_uc021vsp.1_Missense_Mutation_p.G155E	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	155						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTGCTCCAGGGGGCTCCCTGC	0.652000														14			24		0	0	0.729181	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:58722338C>T	uc001nnh.2	+	4	425	c.375C>T	c.(373-375)atC>atT	p.I125I	GLYATL1_uc001nnf.3_Silent_p.I94I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.I94I|GLYATL1_uc001nnj.2_Silent_p.I94I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	94						mitochondrion	glycine N-acyltransferase activity	p.I125I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393000														26			19		0	0	0.575678	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529150	102529150	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:102529150C>T	uc022cbm.1	-	0	342	c.342G>A	c.(340-342)cgG>cgA	p.R114R	TCEAL5_uc004ejz.2_Silent_p.R114R	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 5 (TCEAL5), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTGCTTTCCGGGGCACAT	0.582000														100			18		0	0	0.557998	0	0
OAS2	4939	broad.mit.edu	37	12	113445518	113445518	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:113445518G>A	uc001tuj.3	+	8	1805	c.1665G>A	c.(1663-1665)agG>agA	p.R555R	OAS2_uc001tui.1_Silent_p.R555R	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	555	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGTGAAAGGAAACTGAAGC	0.542000														102			26		0	0	0.760397	0	0
USP9X	8239	broad.mit.edu	37	X	41075851	41075851	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:41075851C>T	uc004dfb.3	+	34	6664	c.6031C>T	c.(6031-6033)Cag>Tag	p.Q2011*	USP9X_uc004dfc.3_Nonsense_Mutation_p.Q2011*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2011					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGAGTATTTTCAGTTTATGAA	0.363000														34			22		0	0	0.654019	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150363	70150363	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:70150363C>T	uc001svp.3	+	2	925	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	RAB3IP_uc021rao.1_Missense_Mutation_p.R144C|RAB3IP_uc001svm.3_Missense_Mutation_p.R144C|RAB3IP_uc001svn.3_Missense_Mutation_p.R144C|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.R160C|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	160					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.R160S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGTCTGTCTCGTTTACGAAG	0.393000														107			50		0	0	0.870114	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377786	50377786	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:50377786C>T	uc004dpe.2	-	3	1313	c.1287G>A	c.(1285-1287)agG>agA	p.R429R	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Silent_p.R313R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	429					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTTGCTGCCCCTGGTATCAA	0.592000														30			8		0	0	0.335167	0	0
DGKG	1608	broad.mit.edu	37	3	186006599	186006599	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:186006599G>A	uc003fqa.3	-	5	981	c.444C>T	c.(442-444)gtC>gtT	p.V148V	DGKG_uc003fqb.3_Silent_p.V148V|DGKG_uc003fqc.3_Silent_p.V148V|DGKG_uc011brx.2_Silent_p.V148V	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	148					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AAGACCGAGGGACGGGGGGTT	0.552000														224			108		0	0	0.870114	0	0
MYH6	4624	broad.mit.edu	37	14	23855722	23855722	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:23855722C>T	uc001wjv.3	-	32	4832	c.4761G>A	c.(4759-4761)caG>caA	p.Q1587Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1587					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCGCTTGGCCTGTTCCATCT	0.607000														210			92		0	0	0.870114	0	0
CARD11	84433	broad.mit.edu	37	7	2954992	2954992	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:2954992G>A	uc003smv.3	-	20	3052	c.2718C>T	c.(2716-2718)tcC>tcT	p.S906S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	906					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACTTGTTCTCGGACCTGCTGA	0.612000			Mis		DLBCL									84			3		0	0	0.115264	0	0
CNTN3	5067	broad.mit.edu	37	3	74347312	74347312	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:74347312C>T	uc003dpm.1	-	16	2277	c.2197G>A	c.(2197-2199)Ggt>Agt	p.G733S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	733	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCCAAAACCTTCACCATTC	0.458000														40			15		0	0	0.539581	0	0
GAS2	2620	broad.mit.edu	37	11	22777462	22777462	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:22777462G>A	uc009yie.3	+	6	992	c.686G>A	c.(685-687)gGa>gAa	p.G229E	GAS2_uc001mqm.3_Missense_Mutation_p.G229E|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.G229E	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	229	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTCTCCCAAGGAAGATACCGA	0.408000														36			13		0	0	0.479597	0	0
SYCP1	6847	broad.mit.edu	37	1	115524020	115524020	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:115524020C>T	uc001efr.3	+	28	2655	c.2446C>T	c.(2446-2448)Cct>Tct	p.P816S	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.P816S|SYCP1_uc009wgw.3_Missense_Mutation_p.P791S	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	816					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCAGTTCCTTCACAAAC	0.323000														84			34		0	0	0.788014	0	0
CACNA1F	778	broad.mit.edu	37	X	49066156	49066156	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:49066156A>G	uc004dnb.3	-	40	4849	c.4787T>C	c.(4786-4788)tTc>tCc	p.F1596S	CACNA1F_uc010nip.3_Missense_Mutation_p.F1585S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1596					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTCCGCCGGAATTTGCGGAA	0.582000														21			9		0	0	0.307466	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750329	94750329	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94750329G>A	uc001yct.3	-	4	1774	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	SERPINA10_uc001ycu.4_Silent_p.G436G	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	436					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCACCACCCTGCCCAGAAACA	0.448000														81			22		0	0	0.693898	0	0
UCHL1	7345	broad.mit.edu	37	4	41262709	41262709	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:41262709G>A	uc003gvo.3	+	3	316	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	UCHL1_uc003gvp.3_5'UTR	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	74					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GAAGGGACAAGAAGTTAGTCC	0.418000														40			29		0	0	0.717897	0	0
INTS1	26173	broad.mit.edu	37	7	1524809	1524809	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:1524809G>A	uc003skn.2	-	23	3287	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T	INTS1_uc003skp.1_Silent_p.T409T	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1062					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGCTGATGGTCTGGGGAT	0.662000														32			32		0	0	0.840704	0	0
abParts	0	broad.mit.edu	37	14	106926337	106926337	+	RNA	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:106926337G>A	uc021ser.1	-	325		c.11531C>T								Parts of antibodies, mostly variable regions.																		CAACTAATAAGAGAGACCCAC	0.507000														142			58		0	0	0.870114	0	0
DPYS	1807	broad.mit.edu	37	8	105441861	105441861	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:105441861C>T	uc003yly.4	-	4	991	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	288					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTGCCATTCTTTATTCCAG	0.478000														41			29		0	0	0.750413	0	0
OR4S2	219431	broad.mit.edu	37	11	55418899	55418899	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:55418899C>T	uc001nhs.1	+	0	520	c.520C>T	c.(520-522)Cac>Tac	p.H174Y		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGAGATAGATCACTACTTTTG	0.448000														234			45		0	0	0.870114	0	0
MARCH1	55016	broad.mit.edu	37	4	164534518	164534518	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:164534518G>A	uc003iqs.2	-	4	372	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	MARCH1_uc003iqr.2_Missense_Mutation_p.P47S	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	64	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGCTCCTGGGAGCTGTCCCT	0.413000														73			38		0	0	0.870114	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243542101	243542101	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:243542101A>G	uc001hzw.3	+	12	1721	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G	SDCCAG8_uc010pyk.2_Missense_Mutation_p.R373G|SDCCAG8_uc010pyl.2_Missense_Mutation_p.R330G|SDCCAG8_uc001hzx.3_Missense_Mutation_p.R330G	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	518	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGCCCTGGCCAGAGAGGAGTG	0.498000														84			23		0	0	0.667858	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404060	34404060	+	RNA	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:34404060C>T	uc002edv.1	-	0		c.703G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TATGCGCCAACCCTATTTCAG	0.632000														12			7		0	0	0.335167	0	0
MYH4	4622	broad.mit.edu	37	17	10357125	10357125	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:10357125G>A	uc002gmn.3	-	22	2880	c.2769C>T	c.(2767-2769)atC>atT	p.I923I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	923					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTACCTCTTTGATTTTGGCCT	0.423000														126			134		0	0	0.870114	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913684	77913684	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:77913684C>T	uc022bzi.1	-	0	234	c.234G>A	c.(232-234)aaG>aaA	p.K78K	ZCCHC5_uc004edc.1_Silent_p.K78K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	78	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ACTCTGGGGTCTTTTGGGCCT	0.612000														14			6		0	0	0.217242	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212729	134212729	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:134212729G>A	uc001qhp.3	+	1	356	c.168G>A	c.(166-168)ctG>ctA	p.L56L		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	56					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACTTCATGCTGGAGGATTCCA	0.602000														68			11		0	0	0.361761	0	0
EFHA1	221154	broad.mit.edu	37	13	22084147	22084147	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:22084147G>A	uc001uof.3	-	7	825	c.757C>T	c.(757-759)Cga>Tga	p.R253*	EFHA1_uc010tct.2_Nonsense_Mutation_p.R43*	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	253	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		ATTTACCTTCGAAATTCTTTA	0.284000														26			13		0	0	0.479597	0	0
REG3A	5068	broad.mit.edu	37	2	79385524	79385524	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:79385524G>A	uc002sod.2	-	2	609	c.261C>T	c.(259-261)ttC>ttT	p.F87F	REG3A_uc002soe.2_Silent_p.F87F|REG3A_uc002sof.2_Silent_p.F87F	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	87	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGGAGGACACGAAGGATCCCT	0.562000														79			18		0	0	0.624587	0	0
KCNB2	9312	broad.mit.edu	37	8	73848172	73848172	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:73848172C>T	uc003xzb.3	+	2	1170	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	194					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTTCCAGATCCTGGCCATCG	0.463000														197			53		0	0	0.870114	0	0
LILRB4	11006	broad.mit.edu	37	19	55179098	55179098	+	Missense_Mutation	SNP	G	A	A	rs146325339	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:55179098G>A	uc002qgp.3	+	10	1416	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	LILRB4_uc002qgq.3_Missense_Mutation_p.D351N|LILRB4_uc010ert.3_Missense_Mutation_p.D393N|LILRB4_uc010eru.3_Missense_Mutation_p.D382N	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	352						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCCACACGATGAAGACCC	0.567000														74			25		0	0	0.717897	0	0
CD22	933	broad.mit.edu	37	19	35823807	35823807	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:35823807G>A	uc010edt.3	+	2	476	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	CD22_uc010edu.3_Missense_Mutation_p.R131Q|CD22_uc010edv.3_Missense_Mutation_p.R131Q|CD22_uc002nzb.4_Missense_Mutation_p.R131Q|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	131	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGGATGGAACGAATACACCTC	0.552000														58			24		0	0	0.717897	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363745	98363745	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:98363745C>T	uc001kmq.3	-	14	2360	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	PIK3AP1_uc001kmo.3_Silent_p.G343G|PIK3AP1_uc001kmp.3_Silent_p.G566G	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	744						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCTCGTTGTCCCCTTCCATCC	0.547000														10			3		0	0	0.115264	0	0
FARP1	10160	broad.mit.edu	37	13	99047569	99047569	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:99047569C>T	uc001vnh.3	+	12	1492	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	FARP1_uc001vnj.3_Missense_Mutation_p.S418F	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	418					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGAAGGTTTCCGCCGGGGAG	0.687000														31			10		0	0	0.387290	0	0
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:248458257G>A	uc010pzj.2	-	0	624	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547000														59			27		0	0	0.729181	0	0
CD163	9332	broad.mit.edu	37	12	7654007	7654007	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:7654007C>T	uc001qsz.3	-	2	313	c.185G>A	c.(184-186)gGg>gAg	p.G62E	CD163_uc001qta.3_Missense_Mutation_p.G62E|CD163_uc009zfw.2_Missense_Mutation_p.G62E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	62	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCACTCTCCCGCTACACTT	0.502000														138			36		0	0	0.870114	0	0
NLRX1	79671	broad.mit.edu	37	11	119044377	119044377	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:119044377G>A	uc001pvu.3	+	4	634	c.419G>A	c.(418-420)gGg>gAg	p.G140E	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Missense_Mutation_p.G140E|NLRX1_uc001pvw.3_Missense_Mutation_p.G140E|NLRX1_uc001pvx.3_Missense_Mutation_p.G140E	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	140	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCCAGGCCGGGCTCCCCCCA	0.657000														37			13		0	0	0.411799	0	0
CARD11	84433	broad.mit.edu	37	7	2976769	2976769	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:2976769C>T	uc003smv.3	-	8	1577	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	415					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCATCTCGTCGTTCTTCTCC	0.577000			Mis		DLBCL									78			26		0	0	0.750413	0	0
DBR1	51163	broad.mit.edu	37	3	137893608	137893608	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:137893608G>C	uc003erv.3	-	0	184	c.30C>G	c.(28-30)caC>caG	p.H10Q	DBR1_uc003eru.3_5'UTR	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	10						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCAGCTCGCCGTGGCAGCAGC	0.687000														14			4		0	0	0.184627	0	0
GAPT	202309	broad.mit.edu	37	5	57790634	57790634	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:57790634G>A	uc003jro.1	+	2	665	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GAPT_uc021xyy.1_Missense_Mutation_p.D91N	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	91					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TAACACACACGACAACTATGA	0.428000														42			20		0	0	0.639603	0	0
FAT2	2196	broad.mit.edu	37	5	150914116	150914116	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:150914116G>A	uc003lue.4	-	11	9294	c.9281C>T	c.(9280-9282)tCg>tTg	p.S3094L	FAT2_uc003lud.4_5'Flank	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3094	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTGGCACGATCGGCCACC	0.577000														69			39		0	0	0.870114	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032512	21032512	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:21032512C>T	uc010sil.2	+	8	1343	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	SLCO1B3_uc001rek.3_Silent_p.F426F|SLCO1B3_uc001rel.3_Silent_p.F426F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	426					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTATATTTCCCTCTAATCT	0.313000														36			22		0	0	0.667858	0	0
SRCAP	10847	broad.mit.edu	37	16	30749171	30749171	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:30749171C>G	uc002dze.1	+	33	8195	c.7810C>G	c.(7810-7812)Cct>Gct	p.P2604A	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2399A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2604	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTCTCTCACCCCTTCTGCACC	0.557000														61			21		0	0	0.681144	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432855	110432855	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:110432855C>T	uc003yne.3	+	22	2737	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	878					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q878K(1)|p.Q878R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACCAATATTCTGTTACCATG	0.368000										HNSCC(38;0.096)				88			36		0	0	0.847076	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956962	33956962	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:33956962C>T	uc001bxj.4	+	5	1271	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	ZSCAN20_uc001bxk.2_Silent_p.G314G|ZSCAN20_uc009vui.3_Silent_p.G368G	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	368					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCAAGGGGCTTCCTGCGGA	0.537000														109			34		0	0	0.847076	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603272	138603272	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:138603272G>A	uc011kql.2	-	1	1149	c.1100C>T	c.(1099-1101)gCa>gTa	p.A367V	KIAA1549_uc011kqj.2_Missense_Mutation_p.A367V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	367						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGACGCAAATGCAAGAGGAGT	0.498000			O	BRAF	pilocytic astrocytoma									203			5		0	0	0.217242	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				23			28		0	0	0.812448	0	0
OR5M1	390168	broad.mit.edu	37	11	56380701	56380701	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:56380701G>A	uc001nja.1	-	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCAGCGTAGGAGATGGTCTT	0.438000														69			10		0	0	0.411799	0	0
VPS13B	157680	broad.mit.edu	37	8	100287337	100287337	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:100287337C>T	uc003yiv.3	+	18	2790	c.2679C>T	c.(2677-2679)ccC>ccT	p.P893P	VPS13B_uc003yiw.3_Silent_p.P893P|VPS13B_uc003yiu.1_Silent_p.P893P|VPS13B_uc003yix.1_Silent_p.P364P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	893					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTTGATTCCCTTGCTTCAGG	0.353000														18			4		0	0	0.150653	0	0
MEPE	56955	broad.mit.edu	37	4	88766882	88766882	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:88766882C>T	uc021xpx.1	+	3	967	c.955C>T	c.(955-957)Cca>Tca	p.P319S	MEPE_uc021xpu.1_Missense_Mutation_p.P288S|MEPE_uc021xpv.1_Missense_Mutation_p.P175S|MEPE_uc021xpw.1_Missense_Mutation_p.P175S|MEPE_uc010ikn.3_Missense_Mutation_p.P175S|MEPE_uc003hqy.3_Missense_Mutation_p.P288S|MEPE_uc021xpy.1_Missense_Mutation_p.P175S	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	288					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTTTGCAGGCCCAAGTGAAGC	0.448000														34			14		0	0	0.479597	0	0
MIER2	54531	broad.mit.edu	37	19	325681	325681	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:325681G>A	uc002lok.1	-	6	618	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	203	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GGTCAGCTTGGAACTGAGGTC	0.602000														71			34		0	0	0.870114	0	0
DDX60	55601	broad.mit.edu	37	4	169145470	169145470	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:169145470C>T	uc003irp.3	-	34	5040	c.4748G>A	c.(4747-4749)aGa>aAa	p.R1583K	DDX60_uc003iro.3_Missense_Mutation_p.R54K	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1583							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AATTGCTACTCTTCCTTCCTT	0.373000														43			22		0	0	0.639603	0	0
TRIML2	205860	broad.mit.edu	37	4	189022404	189022404	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:189022404C>T	uc011cle.1	-	3	508	c.286_splice	c.e3-1	p.E96_splice	TRIML2_uc003izj.1_Splice_Site|TRIML2_uc003izk.1_Splice_Site|TRIML2_uc003izl.2_Splice_Site_p.E46_splice|TRIML2_uc011clf.1_Splice_Site_p.E96_splice	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	46							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTTCCTCTTCCTTCCTCATA	0.343000														29			14		0	0	0.479597	0	0
XIRP1	165904	broad.mit.edu	37	3	39230094	39230094	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:39230094G>A	uc003cjk.2	-	1	1072	c.843C>T	c.(841-843)atC>atT	p.I281I	XIRP1_uc003cji.3_Silent_p.I281I|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.I281I	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	281							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTCCTGGTTGATGGCGTCCA	0.657000														30			13		0	0	0.435327	0	0
SLC25A21	89874	broad.mit.edu	37	14	37203756	37203756	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:37203756T>C	uc001wtz.2	-	3	536	c.226A>G	c.(226-228)Att>Gtt	p.I76V	SLC25A21_uc021rsf.1_Missense_Mutation_p.I76V	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GGTGGCAGAATTCCCTTGTAA	0.398000														10			5		0	0	0.248553	0	0
OR52E2	119678	broad.mit.edu	37	11	5079909	5079909	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5079909C>T	uc010qyw.2	-	0	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E317K(2)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTACTCTTCCTTTTCCATT	0.338000														29			15		0	0	0.539581	0	0
TPTE	7179	broad.mit.edu	37	21	10920136	10920136	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:10920136C>T	uc002yip.1	-	18	1486	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R355Q|TPTE_uc002yir.1_Missense_Mutation_p.R335Q|TPTE_uc010gkv.1_Missense_Mutation_p.R235Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	373	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q372H(1)|p.Q372K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATCTGTTCGCCTTTCTCC	0.383000														89			8		0	0	0.387290	0	0
KLK14	43847	broad.mit.edu	37	19	51582886	51582886	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51582886G>A	uc021uyk.1	-	4	553	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	KLK14_uc002pvs.1_Missense_Mutation_p.R112C	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	112	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCACCTGACGAACCACGCGC	0.652000														17			9		0	0	0.335167	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42165071	42165071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:42165071C>T	uc002xkn.1	+	11	1284	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	L3MBTL1_uc010zwh.2_Nonsense_Mutation_p.R694*|L3MBTL1_uc002xkm.3_Nonsense_Mutation_p.R626*|L3MBTL1_uc010ggl.3_Nonsense_Mutation_p.R631*|L3MBTL1_uc002xkl.3_Nonsense_Mutation_p.R626*|L3MBTL1_uc002xko.3_Nonsense_Mutation_p.R278*	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	626	Interaction with monomethylated and dimethylated peptides.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R694*(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCCGAAGTATCGAAAGATTCC	0.547000														103			44		0	0	0.870114	0	0
ABCB1	5243	broad.mit.edu	37	7	87178784	87178784	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:87178784C>A	uc003uiz.2	-	14	2098	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	ABCB1_uc011khc.2_Missense_Mutation_p.Q471H	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	535	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCTCTGCTTCTGCCCACCAC	0.542000														100			90		5.66435e-50	5.80228e-50	0.870114	1	0
ABCA4	24	broad.mit.edu	37	1	94528687	94528687	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:94528687T>C	uc001dqh.3	-	11	1845	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	ABCA4_uc010otn.1_Missense_Mutation_p.T581A	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	581					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCTTATTGGTTTTCTCCACC	0.473000														175			87		0	0	0.870114	0	0
DCP1A	55802	broad.mit.edu	37	3	53326850	53326850	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:53326850G>A	uc021wzi.1	-	6	742	c.632C>T	c.(631-633)cCa>cTa	p.P211L	DCP1A_uc021wzk.1_Missense_Mutation_p.P173L	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	211					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTGTCCAGATGGAGCAGACTG	0.423000														29			16		0	0	0.539581	0	0
C1orf173	127254	broad.mit.edu	37	1	75037752	75037752	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:75037752C>T	uc001dgg.3	-	13	3861	c.3642G>A	c.(3640-3642)ggG>ggA	p.G1214G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1214	Glu-rich.							p.E1213*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCTAAGGCCCCCTCTCCAT	0.602000														66			17		0	0	0.520397	0	0
NWD1	284434	broad.mit.edu	37	19	16910771	16910771	+	Silent	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:16910771C>A	uc002neu.4	+	16	3956	c.3534C>A	c.(3532-3534)gcC>gcA	p.A1178A	NWD1_uc002net.4_Silent_p.A1043A|NWD1_uc002nev.4_Silent_p.A972A|NWD1_uc021uqg.1_Silent_p.A1043A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1178							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTGCTGGCCCGCGGCGGGG	0.622000														52			16		2.37509e-13	2.40946e-13	0.592651	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77401502	77401502	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:77401502C>T	uc002ffc.4	-	3	1033	c.614G>A	c.(613-615)aGg>aAg	p.R205K	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	205					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCTGCTGTCCTTTTGTACAG	0.537000														63			22		0	0	0.654019	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584882	72584882	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:72584882C>T	uc002jkz.2	-	1	176	c.147G>A	c.(145-147)ttG>ttA	p.L49L	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	49	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						ACCGCCACTTCAAGTAGGTCT	0.483000														61			76		0	0	0.870114	0	0
N4BP2	55728	broad.mit.edu	37	4	40133427	40133427	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:40133427G>A	uc003guy.4	+	12	4872	c.4534G>A	c.(4534-4536)Gag>Aag	p.E1512K	N4BP2_uc010ifq.3_Missense_Mutation_p.E1432K|N4BP2_uc010ifr.3_Missense_Mutation_p.E1432K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1512						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAGAAAAGGGAGACCCTTAT	0.333000														30			13		0	0	0.457914	0	0
LILRB1	10859	broad.mit.edu	37	19	55144586	55144586	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:55144586G>A	uc002qgj.3	+	7	1418	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.E360K|LILRB1_uc002qgk.3_Missense_Mutation_p.E360K|LILRB1_uc002qgm.3_Missense_Mutation_p.E360K|LILRB1_uc010erq.3_Missense_Mutation_p.E360K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	360	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.E360D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTGACCAAGGAGGGGGCAGC	0.582000										HNSCC(37;0.09)				77			30		0	0	0.706142	0	0
USP10	9100	broad.mit.edu	37	16	84808815	84808815	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:84808815C>T	uc010voe.2	+	13	2456	c.2205C>T	c.(2203-2205)acC>acT	p.T735T	USP10_uc002fii.3_Silent_p.T731T|USP10_uc010vof.2_Silent_p.T293T|USP10_uc002fij.3_Silent_p.T257T	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	731					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L734L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GCCACCGAACCTATCGGCTCT	0.398000														42			23		0	0	0.729181	0	0
NPAS4	266743	broad.mit.edu	37	11	66192167	66192167	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:66192167C>T	uc001ohx.1	+	6	1982	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	NPAS4_uc010rpc.1_Silent_p.V392V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	602					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGTGGATGTCCCCCTGGTGC	0.582000														96			21		0	0	0.667858	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392057	117392058	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:117392057_117392058AG>TT	uc001prh.1	-	5	1182_1183	c.1180_1181CT>AA	c.(1180-1182)ctc>AAc	p.L394N	DSCAML1_uc001pri.1_Missense_Mutation_p.L198N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	334	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCACAGGAGAGGATGACCGTG	0.634000														30			6		0	0	0.115264	0	0
EMR1	2015	broad.mit.edu	37	19	6906493	6906493	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:6906493C>T	uc002mfw.3	+	8	1037	c.999C>T	c.(997-999)atC>atT	p.I333I	EMR1_uc010dvc.3_Silent_p.I333I|EMR1_uc010dvb.3_Silent_p.I281I|EMR1_uc010xji.2_Silent_p.I192I|EMR1_uc010xjj.2_Silent_p.I156I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	333	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATAAGCAGATCCAGCAATGCC	0.393000														50			26		0	0	0.729181	0	0
TMEM105	284186	broad.mit.edu	37	17	79287643	79287643	+	Silent	SNP	C	T	T	rs140676006	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:79287643C>T	uc002kad.2	-	2	748	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	66						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CAGCACAGTCCCCCCAAGGAG	0.647000														41			42		0	0	0.853193	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000														62			32		0	0	0.840704	0	0
SULF1	23213	broad.mit.edu	37	8	70533306	70533306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:70533306C>T	uc003xyg.2	+	12	1975	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	SULF1_uc010lza.1_Nonsense_Mutation_p.R472*|SULF1_uc003xyd.2_Nonsense_Mutation_p.R472*|SULF1_uc003xye.2_Nonsense_Mutation_p.R472*|SULF1_uc003xyf.2_Nonsense_Mutation_p.R472*|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	472					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGGCAAGCTTCGAATTCACAA	0.498000														48			33		0	0	0.853193	0	0
KLHL38	340359	broad.mit.edu	37	8	124663999	124663999	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:124663999C>T	uc003yqs.1	-	0	1192	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	390										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCTCCAATCCCCCCGATGGAG	0.582000														32			13		0	0	0.411799	0	0
OR5L1	219437	broad.mit.edu	37	11	55579489	55579489	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:55579489C>T	uc001nhw.1	+	0	547	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182L(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGATCTACCTCCTGTCTTAAG	0.433000														193			37		0	0	0.827153	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995218	140995218	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:140995218C>T	uc004fbt.3	+	3	2352	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L335L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	676							protein binding	p.P675S(1)		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)					AATCTCCTCTCCAGAGTCCTG	0.567000										HNSCC(15;0.026)				77			39		0	0	0.812448	0	0
PLCB1	23236	broad.mit.edu	37	20	8705358	8705358	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:8705358A>T	uc002wnb.3	+	15	1640	c.1637A>T	c.(1636-1638)tAt>tTt	p.Y546F	PLCB1_uc010zrb.1_Missense_Mutation_p.Y445F|PLCB1_uc002wna.3_Missense_Mutation_p.Y546F|PLCB1_uc002wnc.1_Missense_Mutation_p.Y445F|PLCB1_uc002wnd.1_Missense_Mutation_p.Y123F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	546	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGTGAACTATATTCAGCCA	0.363000														65			34		0	0	0.864702	0	0
BC067347	0	broad.mit.edu	37	17	20744472	20744472	+	RNA	SNP	T	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:20744472T>G	uc010crb.2	+	0		c.132T>G								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		TACACCCTGGTGCCTGAGCCC	0.746000														6			6		0	0	0.278610	0	0
USH1G	124590	broad.mit.edu	37	17	72915642	72915642	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:72915642C>T	uc002jme.1	-	1	1472	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N	USH1G_uc010wro.1_Missense_Mutation_p.S327N	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	430	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGTGGGACGCTGATGCTGCG	0.662000														28			20		0	0	0.608945	0	0
CLVS1	157807	broad.mit.edu	37	8	62212522	62212522	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:62212522C>T	uc003xuh.3	+	1	460	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	CLVS1_uc003xug.2_Missense_Mutation_p.P46S|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	46					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAATGAAAACCCCGATGTTTT	0.448000														55			6		0	0	0.217242	0	0
SPAG5	10615	broad.mit.edu	37	17	26919204	26919204	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:26919204G>A	uc002hbq.3	-	2	1150	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	353					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCATGACGGAGGTATTTAC	0.527000														34			54		0	0	0.870114	0	0
JPH1	56704	broad.mit.edu	37	8	75227679	75227679	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:75227679G>A	uc003yae.3	-	1	596	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	JPH1_uc003yaf.3_Missense_Mutation_p.P186S|JPH1_uc003yag.1_Missense_Mutation_p.P50S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	186					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGCCGGCCGGGCTGTCGGCG	0.701000														13			6		0	0	0.248553	0	0
FAM123B	139285	broad.mit.edu	37	X	63410602	63410602	+	Silent	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:63410602A>G	uc022byb.1	-	0	2565	c.2565T>C	c.(2563-2565)caT>caC	p.H855H	FAM123B_uc004dvo.3_Silent_p.H855H	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	855					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						AGAATCGACTATGGTAGTTGT	0.547000														6			2		0	0	0.115264	0	0
CDH1	999	broad.mit.edu	37	16	68853245	68853245	+	Missense_Mutation	SNP	C	T	T	rs148400889		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:68853245C>T	uc002ewg.1	+	10	1752	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.S482F	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	543	Cadherin 4.			S -> F (in Ref. 2; CAA79356).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.S543fs*14(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTGCCATTTCCACTCGGGCT	0.512000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					58			34		0	0	0.812448	0	0
OR4B1	119765	broad.mit.edu	37	11	48238866	48238866	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:48238866C>T	uc010rhs.2	+	0	505	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTCTGTGGTCCCAATGTGAT	0.498000														85			46		0	0	0.870114	0	0
FZD9	8326	broad.mit.edu	37	7	72849810	72849810	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:72849810C>T	uc003tyb.3	+	0	1702	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	491					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGCGGGGCCCGGAGGCCGGA	0.652000														35			37		0	0	0.847076	0	0
CIB2	10518	broad.mit.edu	37	15	78401635	78401635	+	Silent	SNP	G	A	A	rs150519426		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:78401635G>A	uc010ums.1	-	3	609	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CIB2_uc002bdb.1_Silent_p.S96S|CIB2_uc002bdc.1_Silent_p.S53S	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	96	EF-hand 1.						calcium ion binding	p.S96F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CGCAGAGCACGGAAAACATGT	0.537000														53			29		0	0	0.750413	0	0
PFDN4	5203	broad.mit.edu	37	20	52835653	52835653	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:52835653C>T	uc002xwx.3	+	3	507	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.	123					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			ATGCAAAATTCGGGAGCAACA	0.294000														30			10		0	0	0.435327	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630414	47630414	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:47630414T>C	uc002xtx.4	+	29	4248	c.4096T>C	c.(4096-4098)Ttt>Ctt	p.F1366L	ARFGEF2_uc010zyf.2_Missense_Mutation_p.F659L	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1366					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGCCACACCTTTGAAAAGCA	0.458000														65			31		0	0	0.779181	0	0
LOC440518	440518	broad.mit.edu	37	19	22784265	22784265	+	RNA	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22784265G>A	uc002nqu.4	+	5		c.699G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		AGGAAGAGGAGGGAGCCCAGG	0.577000														3			3		0	0	0.115264	0	0
UNC13C	440279	broad.mit.edu	37	15	54305220	54305220	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:54305220G>A	uc021smr.1	+	0	120	c.120G>A	c.(118-120)aaG>aaA	p.K40K	UNC13C_uc021sms.1_Silent_p.K40K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	40					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCAGAAAAAGGATCAAGACT	0.368000														78			21		0	0	0.624587	0	0
RPTN	126638	broad.mit.edu	37	1	152130351	152130351	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:152130351C>T	uc001ezs.1	-	1	80	c.15G>A	c.(13-15)ctG>ctA	p.L5L		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	5	S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTATGCTATTCAGGAGTTGAG	0.443000														65			38		0	0	0.870114	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634835	122634835	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:122634835C>T	uc003vkl.1	-	0	920	c.854G>A	c.(853-855)aGg>aAg	p.R285K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	285					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTTAGAATCCTTTTCAACGT	0.423000														167			38		0	0	0.870114	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328846	23328846	+	RNA	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:23328846C>T	uc002nrb.1	+	3		c.1199C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAAAGAATTCATAATGGAGA	0.353000														32			10		0	0	0.361761	0	0
HYDIN	54768	broad.mit.edu	37	16	70995892	70995892	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:70995892C>T	uc002ezr.3	-	37	6086	c.5935G>A	c.(5935-5937)Gag>Aag	p.E1979K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1980	Poly-Glu.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCTTTCCTCATCCTCCTCT	0.458000														58			19		0	0	0.750413	0	0
MYH15	22989	broad.mit.edu	37	3	108172924	108172924	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:108172924G>A	uc003dxa.1	-	21	2445	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	796	IQ.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.V796I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACAATGTGAAGACTTTAGATA	0.428000														43			18		0	0	0.592651	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618540	77618540	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:77618540T>A	uc003yau.2	+	1	2604	c.2217T>A	c.(2215-2217)ttT>ttA	p.F739L	ZFHX4_uc003yat.1_Missense_Mutation_p.F739L|ZFHX4_uc003yaw.1_Missense_Mutation_p.F739L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	739						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AGCAGGTGTTTGGCCACTCTG	0.532000										HNSCC(33;0.089)				26			6		0	0	0.217242	0	0
AK7	122481	broad.mit.edu	37	14	96944806	96944806	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:96944806C>T	uc001yfn.2	+	14	1604	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	520					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCCCAGAATTCGTTTGTGCAC	0.552000														103			37		0	0	0.853193	0	0
CEP135	9662	broad.mit.edu	37	4	56890735	56890735	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:56890735C>T	uc003hbi.3	+	24	3623	c.3389C>T	c.(3388-3390)tCt>tTt	p.S1130F	CEP135_uc003hbj.3_Missense_Mutation_p.S836F	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	1130					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding	p.S1130C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACTCTGAGGTCTCCTTCACAT	0.398000														253			95		0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82580115	82580115	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:82580115C>T	uc003uhx.2	-	5	10078	c.9789G>A	c.(9787-9789)atG>atA	p.M3263I	PCLO_uc003uhv.2_Missense_Mutation_p.M3263I|PCLO_uc010lec.3_Missense_Mutation_p.M228I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3194					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S3262Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGTTGCTTCATAGACTGCA	0.473000														122			32		0	0	0.796494	0	0
FAM71D	161142	broad.mit.edu	37	14	67665012	67665012	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:67665012C>T	uc001xja.2	+	2	424	c.134C>T	c.(133-135)cCc>cTc	p.P45L	FAM71D_uc010tsv.2_Non-coding_Transcript|FAM71D_uc001xiz.3_Non-coding_Transcript|FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	45										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GTATCTCCTCCCATGTTAGAG	0.398000														96			38		0	0	0.870114	0	0
GABRG2	2566	broad.mit.edu	37	5	161495078	161495078	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:161495078G>A	uc010jjc.3	+	0	431	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	GABRG2_uc003lyy.4_Missense_Mutation_p.V25M|GABRG2_uc003lyz.4_Missense_Mutation_p.V25M|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	25					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.T24M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAAATGACGGTGTGGATTCT	0.493000														51			17		0	0	0.639603	0	0
SMYD2	56950	broad.mit.edu	37	1	214492290	214492290	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:214492290C>T	uc021pix.1	+	4	531	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SMYD2_uc021piw.1_Silent_p.F74F|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	166	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)		ATCTCGGATTCCCTGACAATG	0.473000														77			30		0	0	0.779181	0	0
IFT122	55764	broad.mit.edu	37	3	129231158	129231158	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:129231158G>A	uc003eml.3	+	24	3249	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N	IFT122_uc003emm.3_Missense_Mutation_p.D964N|IFT122_uc003emn.3_Missense_Mutation_p.D905N|IFT122_uc003emo.3_Missense_Mutation_p.D854N|IFT122_uc003emp.3_Missense_Mutation_p.D814N|IFT122_uc010htc.3_Missense_Mutation_p.D957N|IFT122_uc011bky.2_Missense_Mutation_p.D755N|IFT122_uc011bla.2_Missense_Mutation_p.D738N|IFT122_uc003emr.3_Missense_Mutation_p.D717N|IFT122_uc010hte.3_Missense_Mutation_p.D290N|IFT122_uc003ems.3_Missense_Mutation_p.D346N|IFT122_uc011bkx.1_Missense_Mutation_p.D805N	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	964					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACTGCAGGAAGATCCGTTCAG	0.507000														143			56		0	0	0.870114	0	0
FBXL13	222235	broad.mit.edu	37	7	102524679	102524679	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:102524679C>T	uc003vaq.2	-	11	1516	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.L363L|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.L363L	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	363										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AGTTGTCCGTCAGAGTTGGCA	0.373000														256			64		0	0	0.870114	0	0
TMC5	79838	broad.mit.edu	37	16	19474686	19474686	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:19474686C>T	uc002dgc.4	+	6	1982	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TMC5_uc010vaq.2_Silent_p.S411S|TMC5_uc002dgb.4_Silent_p.S411S|TMC5_uc010var.2_Silent_p.S411S|TMC5_uc002dgd.1_Silent_p.S165S|TMC5_uc002dge.4_Silent_p.S165S|TMC5_uc002dgf.4_Silent_p.S94S|TMC5_uc002dgg.4_Silent_p.S52S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	411						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCCATTTCCCGGGTAAGTC	0.458000														88			31		0	0	0.796494	0	0
CNKSR2	22866	broad.mit.edu	37	X	21550139	21550139	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:21550139A>T	uc004czx.2	+	10	1737	c.1257A>T	c.(1255-1257)aaA>aaT	p.K419N	CNKSR2_uc004czw.3_Missense_Mutation_p.K419N|CNKSR2_uc011mjn.2_Missense_Mutation_p.K370N|CNKSR2_uc011mjo.2_Missense_Mutation_p.K419N|CNKSR2_uc004czy.3_Missense_Mutation_p.K41N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	419	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATATGAAAAAGGAAGATCAA	0.333000														74			8		0	0	0.361761	0	0
KCTD12	115207	broad.mit.edu	37	13	77459381	77459381	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:77459381G>A	uc001vka.1	-	0	1160	c.903C>T	c.(901-903)gcC>gcT	p.A301A	KCTD12_uc010aeu.1_Silent_p.A301A	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 12 (KCTD12), mRNA.	301						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGCTGGCAAAGGCGCAGGTGC	0.622000											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			12		0	0	0.411799	0	0
OLAH	55301	broad.mit.edu	37	10	15103833	15103833	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:15103833G>A	uc001int.2	+	4	687	c.433G>A	c.(433-435)Gat>Aat	p.D145N	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.D92N	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	92					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGTCATCCAGGATAAACCATT	0.388000														91			53		0	0	0.870114	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036666	13036666	+	Silent	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:13036666T>C	uc009vnq.1	+	1	738	c.738T>C	c.(736-738)cgT>cgC	p.R246R	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	246										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						ATGGCTGTCGTTACCTGCTAA	0.473000														136			30		0	0	0.804634	0	0
THOC2	57187	broad.mit.edu	37	X	122769997	122769997	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:122769997G>A	uc004etu.3	-	18	1983	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	THOC2_uc011muh.1_Missense_Mutation_p.R576C	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	651					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGATATTTACGAAAAACTGCA	0.323000														88			12		0	0	0.457914	0	0
OR2T5	401993	broad.mit.edu	37	1	248652022	248652022	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:248652022G>A	uc001iem.1	+	0	133	c.133G>A	c.(133-135)Gga>Aga	p.G45R		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCGTTGTCTGGAAATGCTGT	0.468000														38			24		0	0	0.870114	0	0
ATRX	546	broad.mit.edu	37	X	76937624	76937624	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:76937624C>T	uc004ecp.4	-	8	3356	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	ATRX_uc004ecq.4_Missense_Mutation_p.G1004R|ATRX_uc004eco.4_Missense_Mutation_p.G827R|ATRX_uc004ecr.2_Missense_Mutation_p.G974R|ATRX_uc010nlx.1_Missense_Mutation_p.G1013R|ATRX_uc010nly.1_Missense_Mutation_p.G987R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1042					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTTTCTCCATCAGTTGTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							74			16		0	0	0.479597	0	0
UNC13C	440279	broad.mit.edu	37	15	54919198	54919198	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:54919198G>A	uc021smr.1	+	30	6526	c.6526G>A	c.(6526-6528)Gat>Aat	p.D2176N	UNC13C_uc021sms.1_Missense_Mutation_p.D2178N|UNC13C_uc002acm.3_Missense_Mutation_p.D99N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2178					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATCTCTATGGATGAAACTGG	0.383000														58			31		0	0	0.769981	0	0
TPK1	27010	broad.mit.edu	37	7	144288542	144288542	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:144288542C>T	uc003weq.3	-	6	578	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	159					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCAGCGATTCCTCTTGGATT	0.433000														154			43		0	0	0.870114	0	0
MRPL45	84311	broad.mit.edu	37	17	36478143	36478143	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:36478143C>T	uc002hpy.3	+	6	956	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	265					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATACCAAGATCGTTCCCCCAT	0.502000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			37		0	0	0.859065	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66131364	66131364	+	RNA	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:66131364C>T	uc002jgq.3	+	5		c.10487C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TCCAGGGAGTCCTTCACCTCT	0.572000														6			11		0	0	0.479597	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:124179743C>T	uc010sag.2	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000														37			15		0	0	0.575678	0	0
QRFP	347148	broad.mit.edu	37	9	133769099	133769099	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:133769099G>A	uc011mcb.2	-	0	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	43					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CCCATGGCCAGGTCGGCCCAG	0.667000														15			12		0	0	0.411799	0	0
ZNF676	163223	broad.mit.edu	37	19	22363108	22363108	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22363108G>A	uc002nqs.1	-	2	1729	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTGCAGCATGAATTCTCTTG	0.393000														117			41		0	0	0.859065	0	0
ACE	1636	broad.mit.edu	37	17	61571353	61571353	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:61571353C>T	uc002jau.2	+	20	3241	c.3207C>T	c.(3205-3207)gtC>gtT	p.V1069V	ACE_uc010wpj.2_Silent_p.V495V|ACE_uc010ddv.2_Silent_p.V296V|ACE_uc002jav.2_Silent_p.V495V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.V315V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1069	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTACCTCGTCGATCAGTGGC	0.537000														29			25		0	0	0.693898	0	0
DNAH5	1767	broad.mit.edu	37	5	13859595	13859595	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:13859595A>C	uc003jfd.2	-	29	4958	c.4916T>G	c.(4915-4917)tTt>tGt	p.F1639C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TCCTCCCACAAAGACAGCTTC	0.443000									Kartagener syndrome					62			34		0	0	0.819951	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484800	45484800	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:45484800G>A	uc001cnd.2	-	13	3112	c.2884C>T	c.(2884-2886)Cca>Tca	p.P962S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	962							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGCTCTGTGGATCCTTCATA	0.542000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			30		0	0	0.750413	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960771	73960771	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:73960771C>T	uc004eby.3	-	2	4238	c.3621G>A	c.(3619-3621)ggG>ggA	p.G1207G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1207					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTTTTCAATCCCCTTGTTGT	0.438000														50			14		0	0	0.500413	0	0
GPR162	27239	broad.mit.edu	37	12	6946236	6946236	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:6946236C>T	uc001qra.1	+	10	1577	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPR162_uc001qrb.1_Missense_Mutation_p.L323F	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCTCACGGTGCTTAAGGCTGC	0.667000														45			33		0	0	0.819951	0	0
TTN	7273	broad.mit.edu	37	2	179636157	179636157	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179636157C>T	uc021vsy.1	-	33	8122	c.7897G>A	c.(7897-7899)Gaa>Aaa	p.E2633K	TTN_uc021vsz.1_Missense_Mutation_p.E2587K|TTN_uc021vta.1_Missense_Mutation_p.E2587K|TTN_uc021vtb.1_Missense_Mutation_p.E2587K|TTN_uc002unb.2_Missense_Mutation_p.E2633K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2633	Ig-like 15.						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)			TCCTGGGATTCAGCTACGGTC	0.458000														44			49		0	0	0.870114	0	0
TLE4	7091	broad.mit.edu	37	9	82267548	82267548	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:82267548T>G	uc004ald.3	+	6	1259	c.410T>G	c.(409-411)cTc>cGc	p.L137R	TLE4_uc004alc.3_Missense_Mutation_p.L144R|TLE4_uc010mpr.3_Missense_Mutation_p.L23R|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.L112R|TLE4_uc010mps.3_Missense_Mutation_p.L137R|TLE4_uc004alf.3_Missense_Mutation_p.L83R	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGACATGGTCTCCCCGTACCT	0.552000														133			51		0	0	0.870114	0	0
GPR78	27201	broad.mit.edu	37	4	8588947	8588947	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:8588947C>T	uc003glk.3	+	2	1442	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	317					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGAGAACCCCGCGCCCAGC	0.672000														47			33		0	0	0.796494	0	0
CNTN6	27255	broad.mit.edu	37	3	1262427	1262427	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:1262427C>T	uc003boz.3	+	2	379	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CNTN6_uc010hbo.2_Missense_Mutation_p.P33S|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Missense_Mutation_p.P38S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	38	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTCATTTTTCCTTTGGATTT	0.398000														63			34		0	0	0.812448	0	0
SMYD2	56950	broad.mit.edu	37	1	214503535	214503535	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:214503535C>T	uc021pix.1	+	7	763	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	SMYD2_uc021piw.1_Silent_p.L152L|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	244	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)		TATTGATCTCCTGTACCCAAC	0.433000														37			6		0	0	0.278610	0	0
MUC16	94025	broad.mit.edu	37	19	9049091	9049091	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9049091G>A	uc002mkp.3	-	4	32744	c.32540C>T	c.(32539-32541)tCa>tTa	p.S10847L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10849	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						TGTGGTGTCTGATTTACTATG	0.493000														95			35		0	0	0.847076	0	0
C9	735	broad.mit.edu	37	5	39306872	39306872	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:39306872G>A	uc003jlv.4	-	8	1352	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	421	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CATCATCTATGAGGTTTTCAC	0.373000														32			17		0	0	0.520397	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967854	35967854	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:35967854C>T	uc003olm.3	-	3	471	c.360G>A	c.(358-360)ctG>ctA	p.L120L	SLC26A8_uc003oll.3_Silent_p.L120L|SLC26A8_uc003oln.3_Silent_p.L120L	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	120					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAGGAGGAATCAGTTGCCTTG	0.378000														70			30		0	0	0.769981	0	0
DLG5	9231	broad.mit.edu	37	10	79576333	79576333	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:79576333G>A	uc001jzk.3	-	19	4071	c.4001C>T	c.(4000-4002)tCc>tTc	p.S1334F	DLG5_uc001jzi.3_Missense_Mutation_p.S89F|DLG5_uc001jzj.3_Missense_Mutation_p.S749F|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.S938F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1334					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCCCCGAGGGACGCGGGGTT	0.627000														50			38		0	0	0.853193	0	0
TCRA	0	broad.mit.edu	37	14	22616536	22616536	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:22616536C>T	uc010ajk.2	+	1	363	c.277C>T	c.(277-279)Cac>Tac	p.H93Y	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_Silent_p.S8S|TCRA_uc021rpt.1_Silent_p.S8S					SubName: Full=TRA@ protein;																		CAGTTCTCTCCACATCACTGC	0.547000														59			16		0	0	0.608945	0	0
CD1E	913	broad.mit.edu	37	1	158325805	158325805	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:158325805A>G	uc001fse.3	+	3	1107	c.814A>G	c.(814-816)Acc>Gcc	p.T272A	CD1E_uc010pid.2_Missense_Mutation_p.T270A|CD1E_uc010pie.2_Missense_Mutation_p.T173A|CD1E_uc001fsh.3_Missense_Mutation_p.T83A|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Missense_Mutation_p.T272A|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.T173A|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Missense_Mutation_p.T182A|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Intron|CD1E_uc001frz.3_Missense_Mutation_p.T182A|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Missense_Mutation_p.T83A|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Missense_Mutation_p.T30A	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	272	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTCCGAGCAACCCTGGATGT	0.612000														104			37		0	0	0.827153	0	0
MYO7A	4647	broad.mit.edu	37	11	76893570	76893570	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:76893570G>A	uc001oyb.2	+	24	3482	c.3210G>A	c.(3208-3210)gtG>gtA	p.V1070V	MYO7A_uc010rsl.2_Silent_p.V1070V|MYO7A_uc010rsm.1_Silent_p.V1059V|MYO7A_uc001oyc.2_Silent_p.V1070V|MYO7A_uc001oyd.3_Silent_p.V410V|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.V281V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1070	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATCCCTGTGATGACCAAGA	0.602000														31			14		0	0	0.520397	0	0
ANKRD42	338699	broad.mit.edu	37	11	82917156	82917156	+	Silent	SNP	T	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:82917156T>C	uc010rsv.1	+	2	701	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ANKRD42_uc009yvi.2_Silent_p.G93G|ANKRD42_uc001ozz.1_Silent_p.G65G|ANKRD42_uc001paa.3_Silent_p.G93G|ANKRD42_uc001pab.1_Silent_p.G93G			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	65										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAACGAGAGGTTGGACAGCAT	0.378000														79			44		0	0	0.870114	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519864	69519864	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:69519864C>T	uc021xow.1	-	4	1362	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	402					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCAATGTTATCATGTTGATCC	0.453000														179			55		0	0	0.870114	0	0
LNX1	84708	broad.mit.edu	37	4	54373514	54373514	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:54373514C>T	uc003hag.4	-	3	1001	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.E153K|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	249						cytoplasm	zinc ion binding	p.R249Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCAGAATTTTCCCTGCCCTGG	0.488000														83			24		0	0	0.706142	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:28914104G>A	uc002kwp.3	+	7	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	315	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGAAATGAAGGAAATTGGTTT	0.299000														61			21		0	0	0.608945	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000														82			26		0	0	0.729181	0	0
COL4A6	1288	broad.mit.edu	37	X	107418946	107418946	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:107418946C>T	uc004enw.4	-	28	2874	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	COL4A6_uc004env.4_Missense_Mutation_p.G923E|COL4A6_uc011msn.2_Missense_Mutation_p.G923E|COL4A6_uc010npk.3_Missense_Mutation_p.G923E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	924	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGGAATTCCTTTTAATCC	0.473000									Alport syndrome with Diffuse Leiomyomatosis					41			7		0	0	0.278610	0	0
EPHA4	2043	broad.mit.edu	37	2	222307631	222307631	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:222307631C>T	uc002vmq.3	-	10	2034	c.1992G>A	c.(1990-1992)agG>agA	p.R664R	EPHA4_uc002vmr.2_Silent_p.R664R|EPHA4_uc010zlm.1_Silent_p.R605R	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	664	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R664S(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGAAGTCTCTCCTCTGTTTGT	0.498000														47			55		0	0	0.870114	0	0
KDM3B	51780	broad.mit.edu	37	5	137756404	137756404	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:137756404C>T	uc003lcy.1	+	14	3925	c.3725C>T	c.(3724-3726)tCc>tTc	p.S1242F	KDM3B_uc010jew.1_Missense_Mutation_p.S898F|KDM3B_uc011cys.1_Missense_Mutation_p.S274F	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAAGCAGGGTCCCTGAGGTCG	0.463000														82			30		0	0	0.769981	0	0
PAH	5053	broad.mit.edu	37	12	103245512	103245512	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:103245512C>T	uc001tjq.1	-	7	1338	c.865G>A	c.(865-867)Gga>Aga	p.G289R		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	289					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCACATGTCCCAACAGCTCA	0.468000														54			23		0	0	0.740014	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005017	41005017	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41005017C>T	uc003jmj.4	-	35	4360	c.3870G>A	c.(3868-3870)atG>atA	p.M1290I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M845I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1290							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTGGTTCCTTCATGAGCTGAA	0.488000														18			11		0	0	0.435327	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104685	87104685	+	RNA	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:87104685G>A	uc010osh.2	+	4		c.720G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGACTGCCAAGGAATCCATTG	0.408000														68			25		0	0	0.750413	0	0
KCND2	3751	broad.mit.edu	37	7	120385840	120385840	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:120385840G>A	uc003vjj.1	+	4	2439	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	492					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACAGAATCACGAGTTTGTGGA	0.378000														28			34		0	0	0.819951	0	0
KCNK18	338567	broad.mit.edu	37	10	118960782	118960782	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:118960782G>A	uc010qsr.2	+	1	336	c.336G>A	c.(334-336)acG>acA	p.T112T		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	112						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCTGCTGCACGGTGTTCAGCA	0.562000														39			29		0	0	0.729181	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726867	95726867	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:95726867G>A	uc003uoc.4	+	16	2177	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	DYNC1I1_uc003uod.4_Missense_Mutation_p.D617N|DYNC1I1_uc003uob.3_Missense_Mutation_p.D597N|DYNC1I1_uc003uoe.4_Missense_Mutation_p.D614N|DYNC1I1_uc010lfl.3_Missense_Mutation_p.D623N	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	634					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAACAGAGCTGATAGCGAGGA	0.512000														86			40		0	0	0.870114	0	0
PDYN	5173	broad.mit.edu	37	20	1961046	1961046	+	Missense_Mutation	SNP	G	A	A	rs75861277		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:1961046G>A	uc010gaj.3	-	2	930	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.L230F|PDYN_uc021vzt.1_Missense_Mutation_p.L230F|PDYN_uc021vzu.1_Missense_Mutation_p.L230F|PDYN_uc002wfv.3_Missense_Mutation_p.L230F	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	230					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCGCCGGAGAAAACCGCCA	0.532000														117			69		0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	114448956	114448956	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:114448956C>T	uc003ynu.3	-	0	287	c.128G>A	c.(127-129)gGa>gAa	p.G43E	CSMD3_uc011lhx.2_Missense_Mutation_p.G43E|CSMD3_uc010mcx.1_Missense_Mutation_p.G43E|CSMD3_uc003ynx.4_Missense_Mutation_p.G43E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	43						integral to membrane|plasma membrane		p.G43V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACGTAAATCCACTTTTAAT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				105			59		0	0	0.870114	0	0
DMD	1756	broad.mit.edu	37	X	31747853	31747853	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:31747853C>T	uc004dda.1	-	51	7799	c.7555G>A	c.(7555-7557)Gat>Aat	p.D2519N	DMD_uc004dcr.1_Missense_Mutation_p.D59N|DMD_uc004dcs.1_Missense_Mutation_p.D59N|DMD_uc004dct.1_Missense_Mutation_p.D59N|DMD_uc004dcu.1_Missense_Mutation_p.D59N|DMD_uc004dcv.1_Missense_Mutation_p.D59N|DMD_uc004dcw.2_Missense_Mutation_p.D1175N|DMD_uc004dcx.2_Missense_Mutation_p.D1178N|DMD_uc004dcz.2_Missense_Mutation_p.D2396N|DMD_uc004dcy.1_Missense_Mutation_p.D2515N|DMD_uc004ddb.1_Missense_Mutation_p.D2511N|DMD_uc004ddd.1_Missense_Mutation_p.D59N	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2519					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTTCCAAATCCTGCATTGTT	0.403000														85			22		0	0	0.717897	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079978	70079978	+	Missense_Mutation	SNP	G	A	A	rs142415589	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:70079978G>A	uc003heh.3	-	0	472	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	155					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCACAGGGAAAAACAGCA	0.398000														89			18		0	0	0.608945	0	0
MARCH11	441061	broad.mit.edu	37	5	16067799	16067799	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:16067799G>A	uc003jfo.2	-	3	1203	c.990C>T	c.(988-990)atC>atT	p.I330I	MARCH11_uc010itw.1_Silent_p.I86I	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	330						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TGCTTTCTTCGATGTCTGTGG	0.473000														26			19		0	0	0.557998	0	0
KCNIP4	80333	broad.mit.edu	37	4	20736339	20736339	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:20736339G>A	uc021xmt.1	-	5	569	c.449C>T	c.(448-450)tCc>tTc	p.S150F	KCNIP4_uc003gqe.2_Missense_Mutation_p.S133F|KCNIP4_uc003gqf.1_Missense_Mutation_p.S129F|KCNIP4_uc003gqg.1_Missense_Mutation_p.S88F|KCNIP4_uc003gqh.1_Missense_Mutation_p.S125F|KCNIP4_uc003gqi.1_Missense_Mutation_p.S88F|KCNIP4_uc021xmu.1_Missense_Mutation_p.S116F|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.S113F	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	150	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAGCAAAATGGAAAGACCTTT	0.313000														73			30		0	0	0.779181	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916897	42916897	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:42916897C>T	uc003cmh.3	-	0	737	c.412G>A	c.(412-414)Gat>Aat	p.D138N	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	138					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCATTAAGATCCTTCAAGCCA	0.517000														61			31		0	0	0.796494	0	0
COL6A5	256076	broad.mit.edu	37	3	130159121	130159121	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:130159121A>G	uc010htj.1	+	34	6433	c.5939A>G	c.(5938-5940)aAg>aGg	p.K1980R	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.K19R|COL6A5_uc010htk.1_Missense_Mutation_p.K19R	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1980	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GATGAGTTTAAGGCTGTGAAA	0.413000														29			12		0	0	0.411799	0	0
PASD1	139135	broad.mit.edu	37	X	150844513	150844513	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:150844513G>C	uc004fev.4	+	15	2552	c.2220G>C	c.(2218-2220)caG>caC	p.Q740H		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	740						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATCCACAGGCTTTCCAAG	0.527000														102			54		0	0	0.870114	0	0
TRHDE	29953	broad.mit.edu	37	12	72866853	72866853	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:72866853G>A	uc001sxa.3	+	4	1372	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	448					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCAGTGGTTTGGTGACCTTGT	0.368000														180			51		0	0	0.870114	0	0
DNMBP	23268	broad.mit.edu	37	10	101715388	101715388	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:101715388G>A	uc001kqj.2	-	3	1935	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	615	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGAGTACAGGGACGAGGTGGC	0.567000														20			15		0	0	0.575678	0	0
SPATA8	145946	broad.mit.edu	37	15	97327388	97327388	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:97327388C>T	uc002bue.3	+	1	302	c.95C>T	c.(94-96)tCg>tTg	p.S32L	DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	32								p.S32S(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TGCAGAACCTCGTCGCGACAT	0.567000														55			29		0	0	0.796494	0	0
OR4K1	79544	broad.mit.edu	37	14	20404636	20404636	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:20404636C>T	uc001vwj.2	+	0	870	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L271F(2)|p.L271H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGACAAATTTCTTTCTGTGTT	0.418000														69			23		0	0	0.639603	0	0
CECR1	51816	broad.mit.edu	37	22	17663631	17663631	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:17663631C>T	uc002zmk.1	-	6	1314	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	CECR1_uc010gqu.1_Missense_Mutation_p.D368N|CECR1_uc011agi.1_Missense_Mutation_p.D326N|CECR1_uc002zmj.1_Missense_Mutation_p.D127N	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	368					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGTTCCTGTCTATGGAAGTA	0.532000														40			24		0	0	0.693898	0	0
AGGF1	55109	broad.mit.edu	37	5	76351386	76351386	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:76351386G>C	uc003ket.3	+	10	2063	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	561					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAGAAGAAAAGAATTAAAGAA	0.294000														31			15		0	0	0.575678	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058252	41058252	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41058252C>T	uc003jmj.4	-	6	1159	c.669G>A	c.(667-669)cgG>cgA	p.R223R	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.R223R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	223							binding	p.R223L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGAAGTCTTCCCGATGCAGCA	0.507000														27			5		0	0	0.217242	0	0
USH2A	7399	broad.mit.edu	37	1	216251555	216251555	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:216251555C>T	uc001hku.1	-	26	5835	c.5448G>A	c.(5446-5448)gtG>gtA	p.V1816V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1816	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGTCCATTCACACTTGCTG	0.443000										HNSCC(13;0.011)				132			52		0	0	0.870114	0	0
ITGB4	3691	broad.mit.edu	37	17	73728265	73728265	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:73728265C>G	uc002jpg.3	+	11	1586	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	ITGB4_uc002jph.3_Missense_Mutation_p.R467G|ITGB4_uc010dgo.3_Missense_Mutation_p.R467G|ITGB4_uc002jpi.4_Missense_Mutation_p.R467G|ITGB4_uc010dgp.1_Missense_Mutation_p.R467G|ITGB4_uc002jpj.3_Missense_Mutation_p.R467G|ITGB4_uc010wsh.1_Missense_Mutation_p.R22G	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	467	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGTCAGCTCGCTGCAGCTT	0.637000														33			74		0	0	0.870114	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAGA	0.366000	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)|V600M(IGR1_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					65			52		0	0	0.115264	0	0
RHPN1	114822	broad.mit.edu	37	8	144462028	144462028	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:144462028G>A	uc003yyb.3	+	8	1108	c.975G>A	c.(973-975)cgG>cgA	p.R325R		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	325	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TAGTGCACCGGACCATGGCCC	0.667000														13			12		0	0	0.457914	0	0
WRB	7485	broad.mit.edu	37	21	40762628	40762629	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:40762628_40762629CC>TT	uc002yxs.3	+	1	205_206	c.107_108CC>TT	c.(106-108)tcc>tTT	p.S36F	WRB_uc011aeo.1_Non-coding_Transcript|WRB_uc011aep.1_Missense_Mutation_p.S36F|WRB_uc002yxt.4_Missense_Mutation_p.S2F|WRB_uc010goj.3_Non-coding_Transcript	NM_004627	NP_001139690	O00258	WRB_HUMAN	Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.	36						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TGCCAGATGTCCAGGGTGCTGC	0.589000														24			11		0	0	0.115264	0	0
KDR	3791	broad.mit.edu	37	4	55948738	55948738	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:55948738G>A	uc003has.3	-	27	4029	c.3727C>T	c.(3727-3729)Ccg>Tcg	p.P1243S	KDR_uc003hat.1_Missense_Mutation_p.P1243S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1243					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.P1243L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTCTAACGGGATATCTTCA	0.338000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				102			26		0	0	0.750413	0	0
PRKG1	5592	broad.mit.edu	37	10	54048502	54048502	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:54048502C>T	uc001jjm.3	+	14	1909	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	PRKG1_uc001jjo.3_Missense_Mutation_p.P576S|PRKG1_uc009xow.2_Missense_Mutation_p.P279S|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	561	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTTCTCAGGCCCAGATCCTAT	0.353000														43			33		0	0	0.840704	0	0
VRTN	55237	broad.mit.edu	37	14	74824812	74824812	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:74824812G>A	uc021rwl.1	+	0	1326	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K	VRTN_uc001xpw.4_Silent_p.K442K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	442					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCGGCGAAAGGCCCTCCGGA	0.572000														59			22		0	0	0.608945	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237497	140237497	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140237497C>T	uc003lhx.2	+	0	1864	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	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_uc011dad.2_Missense_Mutation_p.R622C	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	634	Cadherin 6.				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)			CATCCCGTTTCGCGTGGGGCT	0.632000														57			26		0	0	0.706142	0	0
TLN1	7094	broad.mit.edu	37	9	35719779	35719779	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:35719779G>A	uc003zxt.2	-	13	1890	c.1536C>T	c.(1534-1536)acC>acT	p.T512T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	512					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCATCCAGGGTGGCCTGGG	0.572000														6			3		0	0	0.150653	0	0
PRX	57716	broad.mit.edu	37	19	40900022	40900022	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:40900022G>A	uc002onr.3	-	6	4506	c.4237C>T	c.(4237-4239)Ccc>Tcc	p.P1413S	PRX_uc002onq.3_Missense_Mutation_p.P1274S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1413					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACACCCTGGGGAAGCGGAAC	0.662000														89			37		0	0	0.870114	0	0
COL27A1	85301	broad.mit.edu	37	9	117027750	117027750	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:117027750G>A	uc011lxl.2	+	31	3388	c.3388G>A	c.(3388-3390)Gaa>Aaa	p.E1130K	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1130	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTCCCAGGAGAACCGGTAAG	0.622000														34			13		0	0	0.575678	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256303	140256303	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140256303G>A	uc003lic.2	+	0	1373	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	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.E416K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	430	Cadherin 4.				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)			CCTGGACCGCGAGAGCGTGTC	0.612000														279			110		0	0	0.870114	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735006	56735006	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:56735006C>T	uc002qmq.3	-	2	748	c.582G>A	c.(580-582)agG>agA	p.R194R	ZSCAN5A_uc010ygi.2_Silent_p.R77R|ZSCAN5A_uc002qmr.3_Silent_p.R194R|ZSCAN5A_uc002qms.1_Silent_p.R194R	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCACCTGCCTCCTGGACAATG	0.612000														35			15		0	0	0.520397	0	0
CDH23	64072	broad.mit.edu	37	10	73550072	73550072	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:73550072C>T	uc001jrx.4	+	43	6332	c.5942C>T	c.(5941-5943)cCc>cTc	p.P1981L		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1984	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCAATGGGCCCATCCTGGCC	0.647000														24			12		0	0	0.411799	0	0
PAPPA	5069	broad.mit.edu	37	9	118950233	118950233	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:118950233C>T	uc004bjn.3	+	1	1597	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	PAPPA_uc011lxp.1_Missense_Mutation_p.R199C|PAPPA_uc011lxq.2_Missense_Mutation_p.R199C	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	406	Metalloprotease.				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						CTCCTCCCTTCGCCGCCGCCT	0.612000														74			21		0	0	0.667858	0	0
MUC3A	4584	broad.mit.edu	37	7	100552576	100552576	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:100552576C>T	uc003uxl.1	+	0	1827	c.1027C>T	c.(1027-1029)Ccg>Tcg	p.P343S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCTACCATCCCGCTCACCAT	0.552000														280			38		0	0	0.870114	0	0
ZNF182	7569	broad.mit.edu	37	X	47836055	47836055	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47836055C>T	uc004dir.3	-	6	1777	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	ZNF182_uc004dis.3_Silent_p.Q458Q|ZNF182_uc004dit.3_Silent_p.Q477Q	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATGACCTCTCTGATGCAGCA	0.393000														55			11		0	0	0.479597	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47970732	47970732	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47970732G>A	uc011mlv.2	+	3	345	c.273G>A	c.(271-273)ggG>ggA	p.G91G	LOC100509575_uc022bvt.1_Non-coding_Transcript	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	91					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GTAACCGTGGGAATGAGGGTG	0.488000														19			14		0	0	0.457914	0	0
PRB2	653247	broad.mit.edu	37	12	11546576	11546576	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:11546576C>T	uc010shk.1	-	2	471	c.436G>A	c.(436-438)Gga>Aga	p.G146R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.582000														569			8		0	0	0.557998	0	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179641269G>A	uc021vsy.1	-	27	5547	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	TTN_uc021vsz.1_Silent_p.I1728I|TTN_uc021vta.1_Silent_p.I1728I|TTN_uc021vtb.1_Silent_p.I1728I|TTN_uc002unb.2_Silent_p.I1774I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1774	Ig-like 8.						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)			TGCAAGTAATGATACCACTGT	0.423000														36			36		0	0	0.819951	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465333	77465333	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:77465333C>T	uc002ffc.4	-	2	773	c.354G>A	c.(352-354)ttG>ttA	p.L118L	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	118					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTGACTGCTCAAAATCGCCG	0.473000														102			52		0	0	0.870114	0	0
SERAC1	84947	broad.mit.edu	37	6	158537289	158537289	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:158537289C>T	uc003qrc.2	-	13	1571	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	SERAC1_uc003qrb.2_Missense_Mutation_p.E205K	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	477					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTAAGAAGTTCGTTGCTTCTG	0.438000														49			24		0	0	0.706142	0	0
PRKG2	5593	broad.mit.edu	37	4	82096107	82096107	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:82096107C>A	uc003hmh.2	-	1	481	c.468G>T	c.(466-468)aaG>aaT	p.K156N	PRKG2_uc011cch.1_Missense_Mutation_p.K156N	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	156					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TAATGAGCTTCTTCTCACTGG	0.318000														68			31		9.65963e-10	9.76799e-10	0.779181	1	0
NAV3	89795	broad.mit.edu	37	12	78400717	78400717	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:78400717G>A	uc001syp.3	+	7	1572	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	NAV3_uc001syo.3_Missense_Mutation_p.E467K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	467						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGCCAAAGGAAAAAGAAGA	0.413000										HNSCC(70;0.22)				34			28		0	0	0.693898	0	0
SEC16A	9919	broad.mit.edu	37	9	139370631	139370631	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:139370631G>A	uc004chx.3	-	2	1746	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	SEC16A_uc004chv.4_Silent_p.D106D|SEC16A_uc004chw.3_Silent_p.D479D|SEC16A_uc010nbn.3_Silent_p.D479D|SEC16A_uc010nbo.1_Silent_p.D479D	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	301					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGAGGAAGGGTCCAAATTGA	0.572000														50			18		0	0	0.539581	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762233	130762233	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:130762233G>A	uc003qcb.3	+	1	3044	c.666G>A	c.(664-666)atG>atA	p.M222I	TMEM200A_uc003qca.3_Missense_Mutation_p.M222I|TMEM200A_uc010kfh.3_Missense_Mutation_p.M222I|TMEM200A_uc010kfi.3_Missense_Mutation_p.M222I|TMEM200A_uc021zfg.1_Missense_Mutation_p.M222I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	222						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTTTTCGAATGGACAGCTCCG	0.483000														32			12		0	0	0.387290	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967575	142967575	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:142967575G>A	uc004fca.3	+	0	403	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	125							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATTAGCAAATGATGTAGTGGA	0.448000														122			59		0	0	0.870114	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109105	101109105	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:101109105C>T	uc003hvq.3	-	2	556	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA.	104					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AACACAACCTCGCAAGCCGCA	0.458000														66			32		0	0	0.769981	0	0
TTN	7273	broad.mit.edu	37	2	179440332	179440332	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179440332C>T	uc021vsy.1	-	274	63048	c.62823G>A	c.(62821-62823)gtG>gtA	p.V20941V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V14636V|TTN_uc021vta.1_Silent_p.V14569V|TTN_uc021vtb.1_Silent_p.V14444V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21868	Ig-like 112.						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)			TCTCTGCCATCACTCTGAAGA	0.443000														54			63		0	0	0.870114	0	0
TMCO7	79613	broad.mit.edu	37	16	68961870	68961870	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:68961870C>T	uc002ewi.4	+	12	2539	c.2527C>T	c.(2527-2529)Ctt>Ttt	p.L843F		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	843						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CCAAGAGGTTCTTTTGTCAGC	0.488000														10			10		0	0	0.435327	0	0
NONO	4841	broad.mit.edu	37	X	70511803	70511803	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:70511803G>A	uc004dzo.3	+	4	1039	c.329G>A	c.(328-330)gGa>gAa	p.G110E	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.G110E|NONO_uc004dzp.3_Missense_Mutation_p.G110E|NONO_uc011mpv.2_Missense_Mutation_p.G21E|NONO_uc004dzq.3_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	110	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAGGATAAAGGATTTGGCTTT	0.428000			T	TFE3	papillary renal cancer									88			36		0	0	0.864702	0	0
LAMC2	3918	broad.mit.edu	37	1	183190096	183190096	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:183190096G>A	uc001gqa.2	+	5	954	c.640_splice	c.e5+1	p.D214_splice	LAMC2_uc001gpz.4_Splice_Site_p.D214_splice|LAMC2_uc010poa.2_Splice_Site	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	214	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTTCATCAAGGTAAAGCCTT	0.453000														38			11		0	0	0.457914	0	0
ASB2	51676	broad.mit.edu	37	14	94404084	94404084	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94404084G>A	uc001ycd.3	-	8	2101	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	ASB2_uc001ycb.2_Silent_p.I223I|ASB2_uc001ycc.2_Silent_p.I529I|ASB2_uc001yce.1_Silent_p.I475I	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	529	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CAAAGCTGTCGATGTGTTCCT	0.617000														57			37		0	0	0.859065	0	0
UNC79	57578	broad.mit.edu	37	14	94173165	94173165	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94173165G>A	uc001ybv.1	+	47	7441	c.7358G>A	c.(7357-7359)cGa>cAa	p.R2453Q	UNC79_uc001ybs.1_Missense_Mutation_p.R2431Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2608						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAGCCCTCCGAAAGTGGTTG	0.592000														57			25		0	0	0.693898	0	0
MRPS23	51649	broad.mit.edu	37	17	55926609	55926609	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:55926609C>T	uc002ivc.3	-	1	269	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_016070	NP_057154	Q9Y3D9	RT23_HUMAN	Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA.	69					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ACGCTCTAATCCGATCCTCGT	0.537000														44			39		0	0	0.870114	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560626	44560626	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:44560626G>A	uc003tlb.3	-	12	3101	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F	NPC1L1_uc011kbw.2_Silent_p.F969F|NPC1L1_uc003tlc.3_Silent_p.F1015F|NPC1L1_uc003tla.3_Silent_p.F18F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1015					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTCGTTCAGGAACCAGGGAA	0.537000														279			74		0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82578913	82578914	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:82578913_82578914AC>TT	uc003uhx.2	-	5	11279_11280	c.10990_10991GT>AA	c.(10990-10992)gtt>AAt	p.V3664N	PCLO_uc003uhv.2_Missense_Mutation_p.V3664N|PCLO_uc010lec.3_Missense_Mutation_p.V629N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3595					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGGGGGAACTTTAGCCATA	0.475000														176			147		0	0	0.115264	0	0
FGF21	26291	broad.mit.edu	37	19	49259604	49259604	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:49259604C>T	uc002pkn.1	+	1	683	c.111C>T	c.(109-111)ctC>ctT	p.L37L	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkl.1_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.L37L	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	37					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGTCCTCTCCTGCAATTCG	0.627000														38			18		0	0	0.575678	0	0
DSP	1832	broad.mit.edu	37	6	7578094	7578094	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:7578094C>T	uc003mxp.1	+	20	3239	c.2960C>T	c.(2959-2961)tCc>tTc	p.S987F	DSP_uc003mxq.1_Missense_Mutation_p.S987F|DSP_uc021yle.1_Missense_Mutation_p.S987F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	987	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGATTCAGTCCCCTTCTGGG	0.473000														82			51		0	0	0.870114	0	0
MGEA5	10724	broad.mit.edu	37	10	103553686	103553686	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:103553686A>G	uc001ktv.2	-	10	2497	c.2054T>C	c.(2053-2055)cTa>cCa	p.L685P	MGEA5_uc001ktu.2_Intron|MGEA5_uc010qqe.1_Missense_Mutation_p.L632P|MGEA5_uc009xws.2_Missense_Mutation_p.L632P	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	685	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCTCCTGCTAGACCACCTCT	0.428000														159			4		0	0	0.150653	0	0
WHAMM	123720	broad.mit.edu	37	15	83499402	83499403	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:83499402_83499403CC>TT	uc002bje.3	+	8	2199_2200	c.1693_1694CC>TT	c.(1693-1695)cca>TTa	p.P565L		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	565						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ACCTGTGGCTCCAAACCTGCCA	0.505000														199			89		0	0	0.115264	0	0
WDR19	57728	broad.mit.edu	37	4	39196180	39196180	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:39196180C>T	uc003gtv.3	+	4	461	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	WDR19_uc010ifl.1_Intron|WDR19_uc003gtu.1_Missense_Mutation_p.L103F|WDR19_uc011byi.2_Intron	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	103					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATGTCTTTCCTTCTTTGGTC	0.333000														17			6		0	0	0.307466	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514795	26514795	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:26514795G>A	uc001bln.4	+	16	1604	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	CNKSR1_uc001blm.4_Missense_Mutation_p.E509K|CNKSR1_uc009vsd.3_Missense_Mutation_p.E251K|CNKSR1_uc009vse.3_Missense_Mutation_p.E251K|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	516					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCGAGAGGAAGGTAGGTG	0.607000														49			19		0	0	0.654019	0	0
MYLK2	85366	broad.mit.edu	37	20	30414655	30414655	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:30414655G>A	uc002wwq.2	+	7	1240	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	MYLK2_uc002wws.2_5'UTR	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	380	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCATCTGACCGAGGTGGACAC	0.572000														55			18		0	0	0.592651	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735521	140735521	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140735521C>T	uc003ljq.2	+	0	754	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R252C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	252	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAAGTGTTCGTGAGAACGT	0.507000														25			10		0	0	0.435327	0	0
USP29	57663	broad.mit.edu	37	19	57640948	57640948	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:57640948C>T	uc002qny.3	+	3	1261	c.905C>T	c.(904-906)tCg>tTg	p.S302L	USP29_uc021vci.1_Missense_Mutation_p.S302L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	302					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.S302S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTTACAATCGCTATTTGCA	0.453000														40			19		0	0	0.575678	0	0
FGFR2	2263	broad.mit.edu	37	10	123298164	123298164	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:123298164G>A	uc021pzz.1	-	5	1337	c.690C>T	c.(688-690)acC>acT	p.T230T	FGFR2_uc021pzv.1_Silent_p.T230T|FGFR2_uc021pzw.1_Silent_p.T115T|FGFR2_uc021pzx.1_Silent_p.T141T|FGFR2_uc021pzy.1_Silent_p.T230T|FGFR2_uc010qtl.2_Silent_p.T230T|FGFR2_uc010qtm.2_Silent_p.T115T|FGFR2_uc021qaa.1_Silent_p.T230T|FGFR2_uc021qab.1_Silent_p.T141T|FGFR2_uc021qac.1_Silent_p.T160T|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.T249T|FGFR2_uc010qto.2_Silent_p.T134T|FGFR2_uc001lfo.1_Silent_p.T249T|FGFR2_uc010qtp.2_Silent_p.T249T|FGFR2_uc010qtq.2_Silent_p.T249T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	230	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCACTACACAGGTATAATTTC	0.483000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					30			25		0	0	0.740014	0	0
NAGA	4668	broad.mit.edu	37	22	42464507	42464507	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:42464507A>C	uc003bbw.4	-	1	633	c.88T>G	c.(88-90)Tgg>Ggg	p.W30G		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	30					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGGCCAGCCAGCCCATGGGT	0.582000														81			39		0	0	0.847076	0	0
GRIK2	2898	broad.mit.edu	37	6	102250277	102250277	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:102250277G>A	uc003pqp.4	+	7	1460	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	GRIK2_uc003pqn.3_Silent_p.L389L|GRIK2_uc010kcw.3_Silent_p.L389L|GRIK2_uc003pqo.4_Silent_p.L389L|GRIK2_uc021zdk.1_Silent_p.L389L|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	389					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTTTGATTTGGATGTGATCA	0.338000														60			24		0	0	0.729181	0	0
EPHA6	285220	broad.mit.edu	37	3	96962934	96962934	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:96962934C>T	uc010how.1	+	4	1452	c.1409C>T	c.(1408-1410)aCc>aTc	p.T470I	EPHA6_uc003drp.1_Missense_Mutation_p.T470I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	375	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCTTAGACACCAGCCAGTGT	0.468000														35			16		0	0	0.479597	0	0
ROR1	4919	broad.mit.edu	37	1	64603123	64603123	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:64603123G>A	uc001dbj.2	+	4	953	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ROR1_uc001dbi.4_Missense_Mutation_p.R185H|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	185	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTGGCAACCGCACCGTCTAT	0.398000														89			45		0	0	0.870114	0	0
OR14I1	401994	broad.mit.edu	37	1	248844738	248844738	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:248844738G>A	uc001ieu.1	-	0	868	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTATTCCTAAGACTATATATG	0.388000														60			22		0	0	0.681144	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827575	14827575	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:14827575C>T	uc001rcd.3	-	7	1205	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	GUCY2C_uc009zhz.2_Silent_p.R356R	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	356					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGTGAGATTCCTGAAAGCAT	0.393000														94			87		0	0	0.870114	0	0
TXLNB	167838	broad.mit.edu	37	6	139564218	139564218	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:139564218C>T	uc021zfy.1	-	9	1665	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	500						cytoplasm		p.A499T(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCAGATTTTTCACGGCGGTTT	0.488000														151			51		0	0	0.870114	0	0
CDC14A	8556	broad.mit.edu	37	1	100961573	100961573	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:100961573A>C	uc001dtf.2	+	12	1754	c.1266A>C	c.(1264-1266)aaA>aaC	p.K422N	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.K364N|CDC14A_uc009wed.1_Missense_Mutation_p.K129N|CDC14A_uc001dtg.4_Missense_Mutation_p.K422N|CDC14A_uc009wee.3_Missense_Mutation_p.K422N	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	422					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ATGATACAAAAGGACATCCAA	0.433000														88			35		0	0	0.853193	0	0
ENAM	10117	broad.mit.edu	37	4	71509972	71509972	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:71509972C>T	uc011caw.1	+	8	3110	c.2829C>T	c.(2827-2829)aaC>aaT	p.N943N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	943					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.Q942E(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGCCAAAACCCTTTTAGAG	0.453000														64			19		0	0	0.575678	0	0
HYAL3	8372	broad.mit.edu	37	3	50332838	50332838	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:50332838G>A	uc021wyn.1	-	1	282	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	HYAL3_uc003cze.2_Intron|HYAL3_uc003czf.2_Intron|HYAL3_uc003czd.2_Missense_Mutation_p.H66Y|HYAL3_uc003czg.2_Missense_Mutation_p.H66Y	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	66					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.H66H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGACCGTGAAAATGCTGG	0.552000														123			43		0	0	0.870114	0	0
C15orf2	23742	broad.mit.edu	37	15	24922704	24922704	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:24922704C>T	uc001ywo.3	+	0	2164	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	564					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCATCTGCCCACCTAACCTC	0.483000														104			50		0	0	0.870114	0	0
OR51B2	79345	broad.mit.edu	37	11	5345482	5345482	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5345482G>A	uc001mao.1	-	0	101	c.46C>T	c.(46-48)Cca>Tca	p.P16S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAGCCCTGGAAAGCCAGTC	0.498000											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37			5		0	0	0.278610	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080315	70080315	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:70080315G>A	uc003heh.3	-	0	135	c.126C>T	c.(124-126)atC>atT	p.I42I	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	42					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTCTTTCAGGATTGTCTTCA	0.433000														163			58		0	0	0.870114	0	0
PSG9	5678	broad.mit.edu	37	19	43766069	43766069	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:43766069C>T	uc002owd.4	-	2	751	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG9_uc002owe.4_Missense_Mutation_p.E218K|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCCGTATTTCACATTCATAG	0.512000														337			140		0	0	0.870114	0	0
LGALS9C	654346	broad.mit.edu	37	17	18389403	18389403	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:18389403G>A	uc002gtw.3	+	2	357	c.287G>A	c.(286-288)gGg>gAg	p.G96E	LGALS9C_uc010vyb.2_Missense_Mutation_p.G8E	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	96	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTCCAGAAGGGGATGCCCTTT	0.582000														14			34		0	0	0.870114	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:24488226C>T	uc003jgr.2	-	11	2419	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(2)|p.R638Q(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)				32			16		0	0	0.539581	0	0
RYR2	6262	broad.mit.edu	37	1	237774281	237774281	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:237774281G>A	uc001hyl.1	+	35	5023	c.4903G>A	c.(4903-4905)Gaa>Aaa	p.E1635K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1635	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATCCCTGAGGAAAACAGGTC	0.542000														12			6		0	0	0.217242	0	0
IL31RA	133396	broad.mit.edu	37	5	55202081	55202081	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:55202081C>T	uc003jql.3	+	8	1409	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	IL31RA_uc003jqk.3_Missense_Mutation_p.S406F|IL31RA_uc011cqj.2_Missense_Mutation_p.S264F|IL31RA_uc003jqm.3_Missense_Mutation_p.S387F|IL31RA_uc003jqn.3_Missense_Mutation_p.S406F|IL31RA_uc010iwa.1_Missense_Mutation_p.S374F|IL31RA_uc021xyq.1_Missense_Mutation_p.S387F|IL31RA_uc003jqo.3_Missense_Mutation_p.S264F	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	374	Fibronectin type-III 4.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCTGGGAATCTGTGTCTCAG	0.512000														42			19		0	0	0.575678	0	0
AGTR2	186	broad.mit.edu	37	X	115304558	115304558	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:115304558G>A	uc022cdd.1	+	0	1025	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E	AGTR2_uc004eqh.4_Missense_Mutation_p.G342E	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	342					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGGCTCCAAGGGAAAAGAGAG	0.438000														69			34		0	0	0.796494	0	0
MAST2	23139	broad.mit.edu	37	1	46496333	46496333	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:46496333C>T	uc001cov.3	+	21	2891	c.2608C>T	c.(2608-2610)Ccg>Tcg	p.P870S	MAST2_uc001cow.3_Missense_Mutation_p.P870S|MAST2_uc001coy.1_Missense_Mutation_p.P544S|MAST2_uc001coz.1_Missense_Mutation_p.P755S|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	870					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GACACCACCCCCGACCAAGCG	0.652000														16			5		0	0	0.184627	0	0
BRPF1	7862	broad.mit.edu	37	3	9781495	9781495	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:9781495A>G	uc003bse.3	+	2	1811	c.1412A>G	c.(1411-1413)gAg>gGg	p.E471G	BRPF1_uc003bsf.3_Missense_Mutation_p.E471G|BRPF1_uc003bsg.3_Missense_Mutation_p.E471G|BRPF1_uc011ati.2_Missense_Mutation_p.E471G	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	471					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					gaagatgaggaggaggatgag	0.582000														9			9		0	0	0.361761	0	0
MKI67	4288	broad.mit.edu	37	10	129906685	129906685	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:129906685G>A	uc001lke.3	-	12	3614	c.3419C>T	c.(3418-3420)cCa>cTa	p.P1140L	MKI67_uc001lkf.3_Missense_Mutation_p.P780L|MKI67_uc009yav.1_Missense_Mutation_p.P715L|MKI67_uc009yaw.1_Missense_Mutation_p.P290L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1140	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGCTTGTTGGAGTGTCCAC	0.468000														157			119		0	0	0.870114	0	0
ALG12	79087	broad.mit.edu	37	22	50303663	50303663	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:50303663G>A	uc003biy.3	-	4	817	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	181					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGAACACGATGATGGCGA	0.657000														17			9		0	0	0.361761	0	0
C20orf26	26074	broad.mit.edu	37	20	20168620	20168620	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:20168620G>A	uc002wru.3	+	13	1546	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	C20orf26_uc010zse.2_Missense_Mutation_p.E458K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	478										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCCTGGTGTGGAAAATCTTGT	0.398000														77			50		0	0	0.870114	0	0
C20orf94	128710	broad.mit.edu	37	20	10582441	10582441	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:10582441C>T	uc010zre.2	+	5	559	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	127							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						CAGTCGTGATCTTTTAGCAAG	0.323000														50			21		0	0	0.740014	0	0
FBXW7	55294	broad.mit.edu	37	4	153251889	153251889	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:153251889G>A	uc003ims.3	-	6	1279	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	FBXW7_uc011cii.2_Missense_Mutation_p.P373S|FBXW7_uc003imt.3_Missense_Mutation_p.P373S|FBXW7_uc011cih.2_Missense_Mutation_p.P197S|FBXW7_uc003imq.3_Missense_Mutation_p.P293S|FBXW7_uc003imr.3_Missense_Mutation_p.P255S	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	373					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTACCTTAGGAGATTTGAGT	0.383000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									103			60		0	0	0.870114	0	0
MMP7	4316	broad.mit.edu	37	11	102395778	102395778	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:102395778G>A	uc001phb.3	-	3	549	c.502C>T	c.(502-504)Cca>Tca	p.P168S	MMP7_uc009yxd.3_Missense_Mutation_p.P168S	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	168					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CCATCAAATGGGTAGGAGTCC	0.458000														47			17		0	0	0.557998	0	0
ZNF566	84924	broad.mit.edu	37	19	36940432	36940432	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:36940432G>A	uc010xtf.2	-	4	842	c.707C>T	c.(706-708)aCc>aTc	p.T236I	ZNF566_uc002oea.4_Missense_Mutation_p.T235I|ZNF566_uc010xte.2_Missense_Mutation_p.T235I|ZNF566_uc002oeb.4_Missense_Mutation_p.T235I|ZNF566_uc002oec.4_Missense_Mutation_p.T131I|ZNF566_uc010xtg.2_Missense_Mutation_p.T131I	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ACAAATAAAGGTTTTTCCACA	0.403000														50			13		0	0	0.479597	0	0
UNC13C	440279	broad.mit.edu	37	15	54527229	54527229	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:54527229G>A	uc021smr.1	+	4	3072	c.3072_splice	c.e4-1	p.G1024_splice	UNC13C_uc021sms.1_Splice_Site_p.G1024_splice	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1024					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTTCAGGGCTGGAGGTGG	0.368000														46			24		0	0	0.667858	0	0
CCDC27	148870	broad.mit.edu	37	1	3673334	3673334	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:3673334C>T	uc001akv.2	+	3	672	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	197										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTGCGAGTTCGATTACTTGC	0.567000														60			27		0	0	0.796494	0	0
LRRC7	57554	broad.mit.edu	37	1	70494040	70494040	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:70494040G>A	uc001dep.3	+	15	1897	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	623						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCAAAGGAGATTACAGT	0.393000														26			13		0	0	0.500413	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894137	10894137	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:10894137G>A	uc003mzo.3	+	2	412	c.116G>A	c.(115-117)gGa>gAa	p.G39E	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CATGATAAAGGATTTCAGAAA	0.299000														28			8		0	0	0.278610	0	0
ZNF735	730291	broad.mit.edu	37	7	63674487	63674487	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:63674487G>A	uc011kdn.2	+	3	262	c.262_splice	c.e3+1	p.V88_splice		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAACACCCAGGTAGGTGAGAG	0.463000														48			14		0	0	0.479597	0	0
IGF1	3479	broad.mit.edu	37	12	102811662	102811662	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:102811662C>T	uc001tjp.4	-	3	741	c.522G>A	c.(520-522)aaG>aaA	p.K174K	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	174					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GCTCTTTCTTCTTTCCTCTGA	0.468000														346			250		0	0	0.870114	0	0
OR52D1	390066	broad.mit.edu	37	11	5510840	5510840	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5510840G>A	uc010qzg.2	+	0	926	c.904G>A	c.(904-906)Gag>Aag	p.E302K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAACCAAGGAGATTCGGAG	0.448000														49			9		0	0	0.335167	0	0
ATCAY	85300	broad.mit.edu	37	19	3907764	3907764	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:3907764C>T	uc010xhz.2	+	5	892	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	ATCAY_uc002lyy.4_Missense_Mutation_p.P131S|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	131					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CAAGAACATGCCCGGGGACAG	0.667000														46			24		0	0	0.740014	0	0
ASH1L	55870	broad.mit.edu	37	1	155450714	155450714	+	Silent	SNP	G	A	A	rs146736660		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:155450714G>A	uc009wqq.3	-	2	2427	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	ASH1L_uc001fkt.3_Silent_p.S649S|ASH1L_uc009wqr.1_Silent_p.S649S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	649					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTTCCAAGGGAAGAGCTTA	0.318000														42			25		0	0	0.667858	0	0
ARID5B	84159	broad.mit.edu	37	10	63851859	63851859	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:63851859C>T	uc001jlt.2	+	9	3093	c.2637C>T	c.(2635-2637)ctC>ctT	p.L879L	ARID5B_uc001jlu.2_Silent_p.L636L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	879					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGAAAAGCTCCATGTAAATT	0.478000														33			21		0	0	0.639603	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895503	42895503	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:42895503G>A	uc003gwt.3	+	0	221	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	74					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGATGAGAATGAGAATGACCA	0.463000														105			56		0	0	0.870114	0	0
CNGA2	1260	broad.mit.edu	37	X	150912051	150912051	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:150912051T>A	uc004fey.1	+	6	1300	c.1076T>A	c.(1075-1077)aTt>aAt	p.I359N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	359					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCCTGATTGGCGTCCTC	0.512000														60			35		0	0	0.812448	0	0
COL5A3	50509	broad.mit.edu	37	19	10084864	10084864	+	Missense_Mutation	SNP	C	T	T	rs147491932		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:10084864C>T	uc002mmq.1	-	46	3573	c.3487G>A	c.(3487-3489)Gga>Aga	p.G1163R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1163	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGACGTCTCCGACCTCCCCT	0.587000														54			30		0	0	0.827153	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170071	118170071	+	Missense_Mutation	SNP	C	G	G	rs141202988		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:118170071C>G	uc003yoh.3	+	3	790	c.560C>G	c.(559-561)gCg>gGg	p.A187G	SLC30A8_uc010mcz.3_Missense_Mutation_p.A138G|SLC30A8_uc003yog.3_Missense_Mutation_p.A138G|SLC30A8_uc011lia.2_Missense_Mutation_p.A138G|SLC30A8_uc022bab.1_Missense_Mutation_p.A138G	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	187					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.A187V(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCGCAGTGGCGGCCAACATT	0.517000														46			20		0	0	0.624587	0	0
C9orf171	389799	broad.mit.edu	37	9	135374949	135374949	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:135374949C>T	uc004cbn.3	+	3	642	c.594C>T	c.(592-594)ccC>ccT	p.P198P	C9orf171_uc004cbo.3_Silent_p.P162P	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	198										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AAGAGCCGCCCCCTCTCCCTC	0.602000														100			31		0	0	0.788014	0	0
TBX22	50945	broad.mit.edu	37	X	79286598	79286598	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:79286598C>T	uc010nmg.1	+	8	1685	c.1551C>T	c.(1549-1551)aaC>aaT	p.N517N	TBX22_uc004edi.1_Silent_p.N397N|TBX22_uc004edj.1_Silent_p.N517N	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	517					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCAATTAACCATTACCTTT	0.323000														24			12		0	0	0.479597	0	0
C1QC	714	broad.mit.edu	37	1	22974088	22974088	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:22974088C>T	uc001bgc.4	+	2	653	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	C1QC_uc001bga.4_Missense_Mutation_p.R184C	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	184	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTGCTGTACCGCAGCGGCGT	0.582000														86			35		0	0	0.812448	0	0
PTPN5	84867	broad.mit.edu	37	11	18754841	18754841	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:18754841C>T	uc001mpd.3	-	10	1590	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	PTPN5_uc001mpb.3_Missense_Mutation_p.V355M|PTPN5_uc001mpc.3_Missense_Mutation_p.V387M|PTPN5_uc010rdj.2_Missense_Mutation_p.V331M|PTPN5_uc001mpf.3_Missense_Mutation_p.V363M|PTPN5_uc001mpe.3_Missense_Mutation_p.V355M|PTPN5_uc010rdk.2_Missense_Mutation_p.V332M	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	387	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCTGCCACACCATGCGCCAG	0.597000														86			44		0	0	0.870114	0	0
APOB	338	broad.mit.edu	37	2	21239402	21239402	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:21239402C>T	uc002red.3	-	20	3369	c.3241G>A	c.(3241-3243)Gat>Aat	p.D1081N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1081					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.N1080S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAGATTCATCATTAACTCTG	0.433000														29			25		0	0	0.693898	0	0
KLB	152831	broad.mit.edu	37	4	39439491	39439491	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:39439491C>T	uc003gua.3	+	2	1578	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	KLB_uc011byj.2_Missense_Mutation_p.S494F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	494	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAACCTAAGTCTTCAGCACAC	0.443000														66			26		0	0	0.750413	0	0
OR51F1	256892	broad.mit.edu	37	11	4791061	4791061	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4791061G>A	uc010qyl.2	-	0	87	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	29						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAATGGAGATCCAGACAT	0.458000														26			8		0	0	0.278610	0	0
PLXNC1	10154	broad.mit.edu	37	12	94653466	94653466	+	Silent	SNP	C	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:94653466C>G	uc001tdc.3	+	18	3456	c.3207C>G	c.(3205-3207)gtC>gtG	p.V1069V	PLXNC1_uc010sut.2_Silent_p.V116V|PLXNC1_uc009zsv.3_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1069					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGTTACTGTCATCCACACCC	0.373000														78			28		0	0	0.796494	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918683	21918683	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:21918683C>T	uc001rff.3	-	2	1587	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTTTGATTTCCTTCTGGAGTC	0.423000														94			65		0	0	0.870114	0	0
CRTAC1	55118	broad.mit.edu	37	10	99664443	99664443	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:99664443C>T	uc001kou.2	-	6	1335	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	CRTAC1_uc001kov.3_Missense_Mutation_p.G327R|CRTAC1_uc001kot.2_Missense_Mutation_p.G117R	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	327						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGGACCTTCCCATGGGTGCTC	0.537000														42			36		0	0	0.796494	0	0
DGKA	1606	broad.mit.edu	37	12	56347547	56347547	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:56347547A>T	uc001sij.3	+	23	2467	c.2203A>T	c.(2203-2205)Agc>Tgc	p.S735C	DGKA_uc001sik.3_Missense_Mutation_p.S735C|DGKA_uc001sil.3_Missense_Mutation_p.S735C|DGKA_uc001sim.3_Missense_Mutation_p.S735C|DGKA_uc001sin.3_Missense_Mutation_p.S735C|DGKA_uc009zof.3_Missense_Mutation_p.S381C|DGKA_uc001sio.3_Missense_Mutation_p.S477C	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	735					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGCTTCTTGAGCTAAGGGGG	0.572000														56			21		0	0	0.575678	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594528	11594528	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:11594528G>A	uc001ash.4	+	17	3604	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1156					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCTTGCCCGAGGGCTCAGT	0.627000														35			25		0	0	0.681144	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251594	25251594	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:25251594G>A	uc002dod.4	-	6	2854	c.2447C>T	c.(2446-2448)tCa>tTa	p.S816L	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S612L	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	816					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACCAAAATTTGAGGAGTCATT	0.428000														55			23		0	0	0.693898	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:6007457G>A	uc001mcd.2	-	0	759	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000														94			46		0	0	0.870114	0	0
TNR	7143	broad.mit.edu	37	1	175365861	175365861	+	Silent	SNP	C	T	T	rs141776089	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:175365861C>T	uc001gkp.1	-	2	1140	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	TNR_uc009wwu.1_Silent_p.T353T|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	353	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				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)					TCACATATTCCGTCACTGCCA	0.617000														81			43		0	0	0.870114	0	0
DOCK2	1794	broad.mit.edu	37	5	169135259	169135259	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:169135259G>A	uc003maf.3	+	14	1550	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Nonsense_Mutation_p.W17*|DOCK2_uc010jjl.1_Intron	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	490	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.W489*(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGCTGGATGGAAACAGTCA	0.398000														37			10		0	0	0.435327	0	0
PRSS53	339105	broad.mit.edu	37	16	31098164	31098164	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:31098164C>T	uc002eaq.3	-	3	298	c.298G>A	c.(298-300)Gag>Aag	p.E100K	PRSS53_uc002ear.3_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	100	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CTGAGTCCCTCACGCTGCAGA	0.627000														47			25		0	0	0.717897	0	0
IGFN1	91156	broad.mit.edu	37	1	201186506	201186506	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:201186506C>T	uc001gwc.3	+	16	9817	c.9687C>T	c.(9685-9687)agC>agT	p.S3229S	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCCGGCAGCGCCCACATCC	0.662000														56			35		0	0	0.853193	0	0
KDM5A	5927	broad.mit.edu	37	12	406238	406238	+	Silent	SNP	A	G	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:406238A>G	uc001qif.1	-	24	4566	c.4203T>C	c.(4201-4203)gcT>gcC	p.A1401A	KDM5A_uc021qsr.1_5'Flank	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1401					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGAAGAATAAGCATGCTCTG	0.398000			T	NUP98	AML									22			26		0	0	0.740014	0	0
ARID3B	10620	broad.mit.edu	37	15	74883771	74883771	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:74883771G>A	uc002aye.3	+	5	1362	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	ARID3B_uc002ayd.3_Silent_p.R387R|ARID3B_uc010bjs.1_Silent_p.R92R	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCACTCTCAGGAAAGGTCAGC	0.562000														88			57		0	0	0.870114	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:39162039G>A	uc003oon.3	-	3	904	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000														75			30		0	0	0.779181	0	0
AGMO	392636	broad.mit.edu	37	7	15425094	15425094	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:15425094C>T	uc003stb.1	-	9	1221	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	351					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGGTCTCTTCATAAAATGCC	0.358000														74			28		0	0	0.706142	0	0
CXorf56	63932	broad.mit.edu	37	X	118678358	118678358	+	Silent	SNP	C	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:118678358C>T	uc004erk.2	-	3	460	c.381G>A	c.(379-381)ggG>ggA	p.G127G	CXorf56_uc004erj.2_Silent_p.G78G|CXorf56_uc011mtu.2_Silent_p.G113G	NM_022101	NP_001164040	Q9H5V9	CX056_HUMAN	Homo sapiens chromosome X open reading frame 56 (CXorf56), transcript variant 1, mRNA.	127							protein binding			cervix(1)|endometrium(2)|lung(7)	10						TGTTCGTTTTCCCAAAGCCCT	0.443000														94			18		0	0	0.575678	0	0
SSTR1	6751	broad.mit.edu	37	14	38679184	38679184	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:38679184G>A	uc021rsi.1	+	0	590	c.590G>A	c.(589-591)cGc>cAc	p.R197H	SSTR1_uc001wul.1_Missense_Mutation_p.R197H	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	197					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTCTTCTCTCGCACCGCGGCC	0.632000														24			17		0	0	0.539581	0	0
NEXN	91624	broad.mit.edu	37	1	78383723	78383738	+	Splice_Site	DEL	GGTAAGAAGCTTGAGG	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:78383723_78383738delGGTAAGAAGCTTGAGG	uc001dic.4	+	4	595	c.298_splice	c.e4+1	p.G100_splice	NEXN_uc001dia.3_Splice_Site_p.G100_splice|NEXN_uc009wcb.1_Splice_Site_p.G36_splice|NEXN_uc001dib.4_Splice_Site_p.G36_splice|NEXN_uc001did.1_Splice_Site_p.G24_splice|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	100	Glu-rich.			YVPKLTGT -> NLPFTVP (in Ref. 3; AAD29607).	regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAATTAACAGGTAAGAAGCTTGAGGGGTAAATAGT	0.287													---	109	---	---	13	---					
IFT57	55081	broad.mit.edu	37	3	107940936	107940943	+	Frame_Shift_Del	DEL	GCTCGGGG	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:107940936_107940943delGCTCGGGG	uc021xcc.1	-	0	280_287	c.227_234delCCCCGAGC	c.(226-234)tccccgagcfs	p.S76fs	IFT57_uc003dwx.4_Intron	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	71					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GCACCCGGGCGCTCGGGGACGCCGGCAC	0.635													---	4	---	---	3	---					
CRIPAK	285464	broad.mit.edu	37	4	1389206	1389207	+	Frame_Shift_Del	DEL	CA	-	-	rs71299249		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:1389206_1389207delCA	uc003gdf.2	+	0	3867_3868	c.907_908delCA	c.(907-909)cacfs	p.H303fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	303					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCGA	0.673													---	667	---	---	7	---					
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:149375600delT	uc003lri.3	-	1	1074	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_uc003lrj.3_Frame_Shift_Del_p.K104fs|TIGD6_uc021yft.1_Frame_Shift_Del_p.K104fs	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	104	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423													---	354	---	---	8	---					
ODZ2	57451	broad.mit.edu	37	5	167625861	167625861	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:167625861delC	uc010jjd.3	+	15	2877	c.2877delC	c.(2875-2877)ttcfs	p.F959fs	ODZ2_uc003lzr.4_Frame_Shift_Del_p.F736fs|ODZ2_uc003lzt.4_Frame_Shift_Del_p.F332fs|ODZ2_uc010jje.3_Frame_Shift_Del_p.F230fs	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCTCCAGGTTCGACCTGATCG	0.557													---	169	---	---	59	---					
COL1A2	1278	broad.mit.edu	37	7	94050333	94050333	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:94050333delC	uc003ung.1	+	37	2779	c.2308delC	c.(2308-2310)cccfs	p.P770fs	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	770			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAAATGGTCCCCCCGGTCC	0.453										HNSCC(75;0.22)			---	180	---	---	7	---					
ISCA1	81689	broad.mit.edu	37	9	88881100	88881101	+	Frame_Shift_Ins	INS	-	TT	TT	rs140944675		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:88881100_88881101insTT	uc004aop.3	-	3	364_365	c.247_248insAA	c.(247-249)agafs	p.R83fs	GOLM1_uc010mqd.1_Intron	NM_030940	NP_112202	Q9BUE6	ISCA1_HUMAN	Homo sapiens iron-sulfur cluster assembly 1 homolog (S. cerevisiae) (ISCA1), mRNA.	83					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		GATGAATACTCTGACTCCTTGG	0.376													---	95	---	---	32	---					
LCN10	414332	broad.mit.edu	37	9	139635711	139635712	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:139635711_139635712insT	uc004civ.3	-	2	418_419	c.359_360insA	c.(358-360)cagfs	p.Q120fs	LCN10_uc010nbq.3_Intron|LCN10_uc011mee.2_Frame_Shift_Ins_p.Q120fs|LCN10_uc011mef.2_Intron|LCN10_uc011med.2_Intron|LCN10_uc004ciw.3_Intron|LCN10_uc022bpt.1_5'Flank	NM_001001712	NP_001001712	Q6JVE6	LCN10_HUMAN	Homo sapiens lipocalin 10 (LCN10), mRNA.	107					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CACCTCCCTCCTGTCCTTCCCT	0.649													---	29	---	---	14	---					
DYNC2H1	79659	broad.mit.edu	37	11	103090657	103090657	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:103090657delA	uc001phn.1	+	55	8990	c.8846delA	c.(8845-8847)caafs	p.Q2949fs	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.Q2949fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2949	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTGAGCAAAAAACAGAA	0.259													---	4	---	---	2	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:40282508delT	uc001zkm.1	+	15	2611	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.I555fs|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	854	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													---	587	---	---	7	---					
GANC	2595	broad.mit.edu	37	15	42632918	42632918	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:42632918delA	uc001zpi.3	+	17	2432	c.2118delA	c.(2116-2118)ctafs	p.L706fs		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	706					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CTGATGAACTAAAGACTTTTG	0.353													---	111	---	---	36	---					
VPS4A	27183	broad.mit.edu	37	16	69355168	69355168	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:69355168delA	uc002eww.3	+	8	1194	c.1066delA	c.(1066-1068)aaafs	p.K356fs		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA.	356					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CACACACTTCAAAAAGGTGAG	0.587													---	4	---	---	2	---					
USP10	9100	broad.mit.edu	37	16	84779250	84779250	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:84779250delC	uc010voe.2	+	4	1426	c.1175delC	c.(1174-1176)tcafs	p.S392fs	USP10_uc002fii.3_Frame_Shift_Del_p.S388fs|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	388					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GTTCCGGTTTCAGAGGATCCT	0.468													---	19	---	---	9	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	A	A	rs66528329		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:18498059_18498060insA	uc002gua.4	-	7		c.2035_2036insT			CCDC144B_uc010vyc.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													---	7	---	---	4	---					
PRKAR1A	5573	broad.mit.edu	37	17	66511673	66511673	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:66511673delA	uc002jhg.3	+	1	313	c.133delA	c.(133-135)agafs	p.R45fs	PRKAR1A_uc002jhh.3_Frame_Shift_Del_p.R45fs|PRKAR1A_uc002jhi.3_Frame_Shift_Del_p.R45fs|PRKAR1A_uc002jhj.3_Frame_Shift_Del_p.R45fs|PRKAR1A_uc002jhk.3_5'UTR|PRKAR1A_uc002jhl.3_Frame_Shift_Del_p.R45fs	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	45	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TCGACCTGAGAGACCCATGGC	0.453			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				---	28	---	---	17	---					
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:45567607_45567609delCTC	uc002pak.3	+	12	1226_1228	c.1128_1130delCTC	c.(1126-1131)cgctcc>cgc	p.S385del	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_In_Frame_Del_p.S323del|CLASRP_uc002pam.3_In_Frame_Del_p.S385del	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	385	Arg-rich.|Ser-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744													---	12	---	---	6	---					
SYN1	6853	broad.mit.edu	37	X	47434113	47434113	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47434113delG	uc004die.3	-	10	1496	c.1367delC	c.(1366-1368)ccgfs	p.P456fs	SYN1_uc004did.3_Frame_Shift_Del_p.P456fs	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	456	D; Pro-rich linker.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTGCTGAGCCGGGGGCCCTGC	0.672													---	4	---	---	2	---